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CC-BY-4.0
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162964
Orphanet classification of rare bone diseases
93419
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93419
Rare bone disease
Category
68411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68411
Rare bone tumor
Category
178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178
Chordoma
Disease
480553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480553
Aneurysmal bone cyst
Disease
296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Ollier disease
Disease
2760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760
OSLAM syndrome
Malformation syndrome
321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321
Multiple osteochondromas
Disease
55881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881
Adamantinoma
Disease
58040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58040
Osteoblastoma
Disease
83468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83468
Solitary bone cyst
Disease
85182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182
Diaphyseal medullary stenosis-bone malignancy syndrome
Disease
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
223727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223727
Bone sarcoma
Clinical group
2023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2023
Undifferentiated pleomorphic sarcoma
Disease
2030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2030
Fibrosarcoma
Disease
668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=668
Osteosarcoma
Disease
319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319
Skeletal Ewing sarcoma
Disease
55880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55880
Chondrosarcoma
Disease
363976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363976
Giant cell tumor of bone
Disease
370348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370348
Peripheral primitive neuroectodermal tumor
Disease
404507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404507
Chondromyxoid fibroma
Disease
435329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329
Familial ossifying fibroma
Disease
93448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448
Lysosomal storage disease with skeletal involvement
Category
61
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61
Alpha-mannosidosis
Disease
309288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288
Alpha-mannosidosis, adult form
Clinical subtype
309282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282
Alpha-mannosidosis, infantile form
Clinical subtype
93
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93
Aspartylglucosaminuria
Disease
585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585
Multiple sulfatase deficiency
Disease
118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118
Beta-mannosidosis
Disease
349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349
Fucosidosis
Disease
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576
Mucolipidosis type II
Disease
577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577
Mucolipidosis type III
Disease
423461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461
Mucolipidosis type III alpha/beta
Clinical subtype
423470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470
Mucolipidosis type III gamma
Clinical subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351
Galactosialidosis
Disease
309324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324
Free sialic acid storage disease, infantile form
Clinical subtype
354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354
GM1 gangliosidosis
Disease
79255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255
GM1 gangliosidosis type 1
Clinical subtype
79256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256
GM1 gangliosidosis type 2
Clinical subtype
79257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257
GM1 gangliosidosis type 3
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
87876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876
Sialidosis type 2
Disease
93399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399
Juvenile sialidosis type 2
Clinical subtype
93400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400
Congenital sialidosis type 2
Clinical subtype
235832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235832
Congenital vascular bone syndrome
Clinical group
2346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346
Angioosteohypertrophic syndrome
Clinical group
90307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307
Parkes Weber syndrome
Disease
90308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308
Klippel-Trénaunay syndrome
Disease
73
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73
Gorham-Stout disease
Malformation syndrome
75508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508
Angioosteohypotrophic syndrome
Malformation syndrome
140436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436
Primary intraosseous venous malformation
Disease
329324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329324
Inverse Klippel-Trénaunay syndrome
Disease
300493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493
Sagliker syndrome
Particular clinical situation in a disease or syndrome
352540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540
Oncogenic osteomalacia
Disease
364526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364526
Primary bone dysplasia
Category
488265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265
Osteofibrous dysplasia
Disease
498445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498445
Genetic inflammatory or rheumatoid-like osteoarthropathy
Category
1159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159
Progressive pseudorheumatoid arthropathy of childhood
Disease
498474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474
Hyaline fibromatosis syndrome
Disease
2028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Juvenile hyaline fibromatosis
Clinical subtype
2176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176
Infantile systemic hyalinosis
Clinical subtype
1451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451
CINCA syndrome
Disease
210115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115
Sterile multifocal osteomyelitis with periostitis and pustulosis
Disease
77297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297
Majeed syndrome
Disease
53715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715
Familial tumoral calcinosis
Disease
306658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658
Familial normophosphatemic tumoral calcinosis
Clinical subtype
306661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Clinical subtype
498448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498448
Overgrowth or tall stature syndrome with skeletal involvement
Category
622925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925
X-linked severe syndromic thoracic aortic aneurysm and dissection
Malformation syndrome
558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
Marfan syndrome
Disease
284963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Marfan syndrome type 1
Clinical subtype
284973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Marfan syndrome type 2
Clinical subtype
3447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447
Weaver syndrome
Malformation syndrome
821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Sotos syndrome
Disease
561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561
Marshall-Smith syndrome
Malformation syndrome
744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Proteus syndrome
Malformation syndrome
140944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
CLOVES syndrome
Malformation syndrome
115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115
Congenital contractural arachnodactyly
Malformation syndrome
60030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030
Loeys-Dietz syndrome
Malformation syndrome
498488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488
Overgrowth syndrome with 2q37 translocation
Malformation syndrome
329191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191
Tall stature-long halluces-multiple extra-epiphyses syndrome
Disease
498485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Malformation syndrome
477831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831
Kosaki overgrowth syndrome
Malformation syndrome
597738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738
Luscan-Lumish syndrome
Malformation syndrome
364536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364536
Primary bone dysplasia with micromelia
Category
15
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15
Achondroplasia
Disease
429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429
Hypochondroplasia
Disease
628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628
Diastrophic dysplasia
Disease
2655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655
Thanatophoric dysplasia
Disease
1860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860
Thanatophoric dysplasia type 1
Clinical subtype
93274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274
Thanatophoric dysplasia type 2
Clinical subtype
1422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422
Chondrodysplasia-difference of sex development syndrome
Malformation syndrome
85165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Disease
364541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541
Otopalatodigital syndrome spectrum disorder
Clinical group
90652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Otopalatodigital syndrome type 2
Malformation syndrome
1826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826
Frontometaphyseal dysplasia
Disease
2484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484
Melnick-Needles syndrome
Malformation syndrome
90650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
Otopalatodigital syndrome type 1
Malformation syndrome
137834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834
Frank-Ter Haar syndrome
Disease
435804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Disease
253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Clinical group
642099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Disease
1458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458
CODAS syndrome
Malformation syndrome
800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800
Schwartz-Jampel syndrome
Disease
239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239
Dyggve-Melchior-Clausen disease
Disease
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
2635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635
Metatropic dysplasia
Disease
828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Stickler syndrome
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
1159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159
Progressive pseudorheumatoid arthropathy of childhood
Disease
1427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427
Otospondylomegaepiphyseal dysplasia
Disease
1667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667
Wolcott-Rallison syndrome
Disease
1830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830
Schimke immuno-osseous dysplasia
Disease
1865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865
Dyssegmental dysplasia, Silverman-Handmaker type
Disease
485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485
Kniest dysplasia
Disease
3101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101
Richieri Costa-da Silva syndrome
Malformation syndrome
1856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856
Spondyloperipheral dysplasia-short ulna syndrome
Disease
83629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Disease
2619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619
Brachydactylous dwarfism, Mseleni type
Disease
93279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Disease
93282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Disease
93283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283
Spondyloepiphyseal dysplasia, Kimberley type
Disease
93284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284
Spondyloepiphyseal dysplasia tarda
Disease
93346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Disease
93347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347
Anauxetic dysplasia
Disease
93349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349
X-linked spondyloepimetaphyseal dysplasia
Disease
93351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351
Spondyloepimetaphyseal dysplasia, Irapa type
Disease
93352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352
Spondyloepimetaphyseal dysplasia, Shohat type
Disease
93356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356
Spondyloepimetaphyseal dysplasia, Missouri type
Disease
93357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357
SPONASTRIME dysplasia
Disease
93358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Disease
93360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Disease
94068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068
Spondyloepiphyseal dysplasia congenita
Disease
99642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642
Spondyloepimetaphyseal dysplasia, Handigodu type
Disease
137678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678
Spondyloepiphyseal dysplasia with metatarsal shortening
Disease
156728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Disease
156731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731
Dyssegmental dysplasia, Rolland-Desbuquois type
Disease
157965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
163649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Disease
163654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Disease
163662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662
Spondyloepiphyseal dysplasia, Reardon type
Disease
163665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665
Spondyloepiphyseal dysplasia tarda, Kohn type
Disease
163668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668
Spondyloepiphyseal dysplasia, MacDermot type
Malformation syndrome
166100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Malformation syndrome
168443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Disease
168451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Disease
168454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454
Spondyloepimetaphyseal dysplasia, Genevičve type
Disease
171866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866
Spondyloepimetaphyseal dysplasia, aggrecan type
Disease
178355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355
Smith-McCort dysplasia
Disease
228387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387
Spondylo-megaepiphyseal-metaphyseal dysplasia
Disease
263482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482
Spondyloepiphyseal dysplasia, Maroteaux type
Disease
353298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298
Roifman syndrome
Disease
370015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Disease
420794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794
Cono-spondylar dysplasia
Malformation syndrome
436174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Disease
642085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type
Disease
496751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751
EVEN-plus syndrome
Malformation syndrome
611207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Clinical syndrome
457395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Malformation syndrome
459070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Malformation syndrome
459051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051
Spondyloepiphyseal dysplasia, Stanescu type
Disease
254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254
Spondylometaphyseal dysplasia
Clinical group
168555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555
Spondylometaphyseal dysplasia, A4 type
Disease
448267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267
Regressive spondylometaphyseal dysplasia
Malformation syndrome
1855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855
Spondyloenchondrodysplasia
Malformation syndrome
85167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Disease
93314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314
Spondylometaphyseal dysplasia, Kozlowski type
Disease
93315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315
Spondylometaphyseal dysplasia, 'corner fracture' type
Disease
93316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316
Spondylometaphyseal dysplasia, Schmidt type
Disease
166272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272
Odontochondrodysplasia
Malformation syndrome
168544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544
Spondylometaphyseal dysplasia, Golden type
Disease
168549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549
Axial spondylometaphyseal dysplasia
Disease
168552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Disease
589435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Malformation syndrome
93426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426
Ciliopathies with major skeletal involvement
Category
1505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505
Short rib-polydactyly syndrome
Clinical group
498497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497
Short rib-polydactyly syndrome type 5
Malformation syndrome
474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474
Jeune syndrome
Malformation syndrome
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
93268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268
Short rib-polydactyly syndrome, Beemer-Langer type
Malformation syndrome
93269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269
Short rib-polydactyly syndrome, Majewski type
Malformation syndrome
93270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270
Short rib-polydactyly syndrome, Saldino-Noonan type
Malformation syndrome
93271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271
Short rib-polydactyly syndrome, Verma-Naumoff type
Malformation syndrome
397715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Malformation syndrome
1803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803
Thoracomelic dysplasia
Disease
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
3317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317
Thoracolaryngopelvic dysplasia
Malformation syndrome
140969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969
Saldino-Mainzer syndrome
Disease
464366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366
NEK9-related lethal skeletal dysplasia
Malformation syndrome
1861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861
Thoracic dysplasia-hydrocephalus syndrome
Malformation syndrome
93429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429
Multiple epiphyseal dysplasia and pseudoachondroplasia
Category
251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251
Multiple epiphyseal dysplasia
Clinical group
93307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307
Multiple epiphyseal dysplasia type 4
Disease
93308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308
Multiple epiphyseal dysplasia type 1
Disease
93311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311
Multiple epiphyseal dysplasia type 5
Disease
166002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Disease
166011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011
Multiple epiphyseal dysplasia, Beighton type
Disease
166016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016
Multiple epiphyseal dysplasia, Lowry type
Disease
166024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024
Multiple epiphyseal dysplasia, Al-Gazali type
Disease
166029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Disease
166032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032
Multiple epiphyseal dysplasia, with miniepiphyses
Disease
647676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676
Multiple epiphyseal dysplasia type 7
Disease
1824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824
Lowry-Wood syndrome
Disease
2114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114
Hip dysplasia, Beukes type
Disease
750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750
Pseudoachondroplasia
Disease
168621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621
Dysplasia of head of femur, Meyer type
Disease
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
93430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430
Multiple metaphyseal dysplasia
Clinical group
1040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040
Metaphyseal anadysplasia
Disease
79106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106
Eiken syndrome
Malformation syndrome
1240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240
Metaphyseal acroscyphodysplasia
Disease
174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174
Metaphyseal chondrodysplasia, Schmid type
Disease
1837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837
Ulna metaphyseal dysplasia syndrome
Disease
2501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501
Metaphyseal chondrodysplasia, Spahr type
Disease
2502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Malformation syndrome
2504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Malformation syndrome
175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175
Cartilage-hair hypoplasia
Disease
811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811
Shwachman-Diamond syndrome
Disease
33067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067
Metaphyseal chondrodysplasia, Jansen type
Disease
166038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038
Metaphyseal chondrodysplasia, Kaitila type
Disease
93434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434
Spondylodysplastic dysplasia
Clinical group
622934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934
SBDS-related severe neonatal spondylometaphyseal dysplasia
Malformation syndrome
2746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746
Opsismodysplasia
Disease
932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932
Achondrogenesis
Disease
93296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296
Achondrogenesis type 2
Clinical subtype
93297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297
Hypochondrogenesis
Clinical subtype
93298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298
Achondrogenesis type 1B
Clinical subtype
93299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299
Achondrogenesis type 1A
Clinical subtype
1293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293
Brachyolmia
Clinical group
448242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242
Autosomal recessive brachyolmia
Malformation syndrome
2899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899
Brachyolmia-amelogenesis imperfecta syndrome
Malformation syndrome
93302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302
Brachyolmia, Maroteaux type
Malformation syndrome
93304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304
Autosomal dominant brachyolmia
Malformation syndrome
1436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436
X-linked skeletal dysplasia-intellectual disability syndrome
Malformation syndrome
3144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144
Schneckenbecken dysplasia
Malformation syndrome
3180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180
Spondylocamptodactyly syndrome
Malformation syndrome
3275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275
Spondylocarpotarsal synostosis
Malformation syndrome
66637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637
Diaphanospondylodysostosis
Malformation syndrome
85166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166
Platyspondylic dysplasia, Torrance type
Malformation syndrome
93317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317
Spondylometaphyseal dysplasia, Sedaghatian type
Malformation syndrome
401979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Malformation syndrome
508533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Disease
93436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436
Acromelic dysplasia
Clinical group
623695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695
MIR140-related spondyloepiphyseal dysplasia
Malformation syndrome
464288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950
Acrodysostosis
Malformation syndrome
969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969
Acromicric dysplasia
Malformation syndrome
2623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623
Geleophysic dysplasia
Malformation syndrome
3041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041
Intellectual disability-balding-patella luxation-acromicria syndrome
Malformation syndrome
63442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442
Angel-shaped phalango-epiphyseal dysplasia
Malformation syndrome
63446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446
Acrocapitofemoral dysplasia
Malformation syndrome
85168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168
Craniofacial conodysplasia
Malformation syndrome
88630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630
Terminal osseous dysplasia-pigmentary defects syndrome
Malformation syndrome
324764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764
Trichorhinophalangeal syndrome
Clinical group
502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502
Trichorhinophalangeal syndrome type 2
Malformation syndrome
77258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258
Trichorhinophalangeal syndrome type 1
Malformation syndrome
2588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588
Myhre syndrome
Malformation syndrome
457059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Clinical group
79443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Pseudohypoparathyroidism type 1A
Disease
79444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Pseudohypoparathyroidism type 1C
Disease
79445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Pseudopseudohypoparathyroidism
Disease
93437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437
Acromesomelic dysplasia
Clinical group
968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968
Acromesomelic dysplasia, Hunter-Thompson type
Malformation syndrome
40
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40
Acromesomelic dysplasia, Maroteaux type
Malformation syndrome
2098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098
Acromesomelic dysplasia, Grebe type
Malformation syndrome
2496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496
Mesomelia-synostoses syndrome
Malformation syndrome
2639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639
Fibular aplasia-complex brachydactyly syndrome
Malformation syndrome
93382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382
Brachydactyly type A6
Malformation syndrome
93438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438
Mesomelic and rhizo-mesomelic dysplasia
Clinical group
240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240
Léri-Weill dyschondrosteosis
Malformation syndrome
1453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453
Cleidorhizomelic syndrome
Malformation syndrome
1765
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765
Dyschondrosteosis-nephritis syndrome
Malformation syndrome
1836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836
Mesomelic dysplasia, Kantaputra type
Malformation syndrome
2021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021
Fibrochondrogenesis
Disease
2497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497
Upper limb mesomelic dysplasia
Malformation syndrome
2631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Malformation syndrome
2632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632
Langer mesomelic dysplasia
Malformation syndrome
2633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633
Mesomelic dysplasia, Nievergelt type
Malformation syndrome
2634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Malformation syndrome
2733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733
Omodysplasia
Malformation syndrome
93328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328
Autosomal dominant omodysplasia
Clinical subtype
93329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329
Autosomal recessive omodysplasia
Clinical subtype
3098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098
Rhizomelic syndrome, Urbach type
Malformation syndrome
2831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831
Rhizomelic dysplasia, Patterson-Lowry type
Malformation syndrome
56304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304
Atelosteogenesis type II
Malformation syndrome
85170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170
Mesomelic dysplasia, Savarirayan type
Malformation syndrome
97360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360
Robinow syndrome
Malformation syndrome
1507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507
Autosomal recessive Robinow syndrome
Clinical subtype
3107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107
Autosomal dominant Robinow syndrome
Clinical subtype
314795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795
SHOX-related short stature
Disease
397623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Malformation syndrome
424099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Malformation syndrome
440354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Malformation syndrome
163966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Disease
611223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223
EN1-related dorsoventral syndrome
Malformation syndrome
580940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940
QRICH1-related intellectual disability-chondrodysplasia syndrome
Malformation syndrome
632603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Malformation syndrome
93439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439
Campomelic dysplasia and related disorders
Clinical group
656283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Disease
140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140
Campomelic dysplasia
Malformation syndrome
1318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318
Campomelia, Cumming type
Malformation syndrome
1801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801
Kyphomelic dysplasia
Malformation syndrome
2646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646
Parastremmatic dwarfism
Malformation syndrome
2768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768
Blount disease
Malformation syndrome
3344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344
Weismann-Netter syndrome
Malformation syndrome
3206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206
Stüve-Wiedemann syndrome
Malformation syndrome
313855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855
FGFR2-related bent bone dysplasia
Disease
324307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Malformation syndrome
93440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440
Slender bone dysplasia
Clinical group
2333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333
Kenny-Caffey syndrome
Malformation syndrome
93324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324
Autosomal recessive Kenny-Caffey syndrome
Etiological subtype
93325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325
Autosomal dominant Kenny-Caffey syndrome
Etiological subtype
2616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616
3M syndrome
Malformation syndrome
2763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763
Osteocraniostenosis
Malformation syndrome
85173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173
IMAGe syndrome
Malformation syndrome
314394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Disease
1506
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506
Thin ribs-tubular bones-dysmorphism syndrome
Malformation syndrome
2108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Hallermann-Streiff syndrome
Malformation syndrome
808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808
Seckel syndrome
Malformation syndrome
2554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Ear-patella-short stature syndrome
Malformation syndrome
2637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637
Microcephalic osteodysplastic primordial dwarfism type II
Malformation syndrome
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
2643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643
Microcephalic primordial dwarfism, Toriello type
Malformation syndrome
2636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636
Microcephalic osteodysplastic primordial dwarfism types I and III
Malformation syndrome
85172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Disease
2109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109
Hallermann-Streiff-like syndrome
Malformation syndrome
572761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Malformation syndrome
572768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768
Microcephaly-micromelia syndrome
Clinical subtype
572773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773
Microcephaly-short stature-limb abnormalities syndrome
Clinical subtype
93441
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441
Primary bone dysplasia with multiple joint dislocations
Clinical group
93360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Disease
2370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370
Larsen-like osseous dysplasia-short stature syndrome
Malformation syndrome
1190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190
Atelosteogenesis type I
Malformation syndrome
114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114
Auriculoosteodysplasia
Malformation syndrome
1263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263
Boomerang dysplasia
Disease
1425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425
Desbuquois syndrome
Malformation syndrome
1508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508
Coxoauricular syndrome
Malformation syndrome
2371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371
Lethal Larsen-like syndrome
Malformation syndrome
503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503
Larsen syndrome
Malformation syndrome
56305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305
Atelosteogenesis type III
Malformation syndrome
85174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174
Pseudodiastrophic dysplasia
Malformation syndrome
263463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463
CHST3-related skeletal dysplasia
Disease
280586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586
Chondrodysplasia with joint dislocations, gPAPP type
Malformation syndrome
284139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Larsen-like syndrome, B3GAT3 type
Malformation syndrome
438117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117
Steel syndrome
Disease
527450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450
Severe myopia-generalized joint laxity-short stature syndrome
Malformation syndrome
589442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Malformation syndrome
642099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Disease
642085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type
Disease
93442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442
Chondrodysplasia punctata
Clinical group
1426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426
Greenberg dysplasia
Disease
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177
Rhizomelic chondrodysplasia punctata
Disease
309803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803
Rhizomelic chondrodysplasia punctata type 3
Etiological subtype
309789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789
Rhizomelic chondrodysplasia punctata type 1
Etiological subtype
309796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796
Rhizomelic chondrodysplasia punctata type 2
Etiological subtype
468717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717
Rhizomelic chondrodysplasia punctata type 5
Etiological subtype
176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176
Non-rhizomelic chondrodysplasia punctata
Clinical group
35173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173
X-linked dominant chondrodysplasia punctata
Disease
79345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345
Brachytelephalangic chondrodysplasia punctata
Malformation syndrome
79346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346
Chondrodysplasia punctata, tibial-metacarpal type
Malformation syndrome
79347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347
Chondrodysplasia punctata, Toriello type
Malformation syndrome
85175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175
Astley-Kendall dysplasia
Malformation syndrome
85202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202
Keutel syndrome
Malformation syndrome
93444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444
Primary bone dysplasia with increased bone density
Category
52430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Disease
2801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801
Juvenile Paget disease
Malformation syndrome
1328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328
Camurati-Engelmann disease
Malformation syndrome
1513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513
Craniodiaphyseal dysplasia
Malformation syndrome
1522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522
Craniometaphyseal dysplasia
Malformation syndrome
1562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562
Dacryocystitis-osteopoikilosis syndrome
Malformation syndrome
1798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798
Dysostosis, Stanescu type
Malformation syndrome
1802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802
Ghosal hematodiaphyseal dysplasia
Malformation syndrome
2658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658
Lenz-Majewski hyperostotic dwarfism
Malformation syndrome
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
2779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Malformation syndrome
2790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790
Endosteal hyperostosis, Worth type
Malformation syndrome
3005
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005
Pyle disease
Disease
3152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152
Sclerosteosis
Malformation syndrome
3352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352
Tricho-dento-osseous syndrome
Malformation syndrome
3416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416
Hyperostosis corticalis generalisata
Malformation syndrome
646139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139
Dysplastic cortical hyperostosis
Malformation syndrome
2204
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Clinical subtype
646136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136
Dysplastic cortical hyperostosis, Al-Gazali type
Clinical subtype
2781
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781
Osteopetrosis and related disorders
Clinical group
94063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063
12q14 microdeletion syndrome
Malformation syndrome
166119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119
Isolated osteopoikilosis
Disease
178389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389
Osteopetrosis-hypogammaglobulinemia syndrome
Disease
210110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110
Intermediate osteopetrosis
Malformation syndrome
53
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53
Albers-Schönberg osteopetrosis
Malformation syndrome
2785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785
Osteopetrosis with renal tubular acidosis
Disease
763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Pycnodysostosis
Disease
1782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782
Dysosteosclerosis
Malformation syndrome
1879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879
Melorheostosis with osteopoikilosis
Malformation syndrome
2485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485
Melorheostosis
Malformation syndrome
2777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777
Osteomesopyknosis
Malformation syndrome
2780
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780
Osteopathia striata-cranial sclerosis syndrome
Malformation syndrome
667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667
Autosomal recessive malignant osteopetrosis
Malformation syndrome
2783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783
Autosomal dominant osteopetrosis type 1
Malformation syndrome
69088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease
85179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179
Infantile osteopetrosis with neuroaxonal dysplasia
Malformation syndrome
99844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844
Leukocyte adhesion deficiency type III
Clinical subtype
500548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548
Osteosclerotic metaphyseal dysplasia
Malformation syndrome
556985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Disease
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
75325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Disease
85182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182
Diaphyseal medullary stenosis-bone malignancy syndrome
Disease
85184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184
Craniometadiaphyseal dysplasia, wormian bone type
Malformation syndrome
85186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186
Endosteal sclerosis-cerebellar hypoplasia syndrome
Malformation syndrome
85188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188
Metaphyseal dysplasia, Braun-Tinschert type
Malformation syndrome
93443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443
Neonatal osteosclerotic dysplasia
Clinical group
1310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310
Caffey disease
Malformation syndrome
1832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832
Lethal osteosclerotic bone dysplasia
Malformation syndrome
35107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107
Desmosterolosis
Disease
50945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945
Blomstrand lethal chondrodysplasia
Malformation syndrome
248095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095
Primary hypertrophic osteoarthropathy
Clinical group
1525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525
Cranio-osteoarthropathy
Malformation syndrome
2796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796
Pachydermoperiostosis
Malformation syndrome
314029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029
High bone mass osteogenesis imperfecta
Disease
324364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Disease
391327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327
X-linked calvarial hyperostosis
Disease
443098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098
Hyperostosis cranialis interna
Disease
329475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475
Spastic paraplegia-Paget disease of bone syndrome
Disease
93446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446
Primary bone dysplasia with decreased bone density
Category
2771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771
Bruck syndrome
Malformation syndrome
2772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Malformation syndrome
2773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Malformation syndrome
666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666
Osteogenesis imperfecta
Disease
216796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796
Osteogenesis imperfecta type 1
Clinical subtype
216804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804
Osteogenesis imperfecta type 2
Clinical subtype
216812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812
Osteogenesis imperfecta type 3
Clinical subtype
216820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820
Osteogenesis imperfecta type 4
Clinical subtype
216828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828
Osteogenesis imperfecta type 5
Clinical subtype
2050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050
Cole-Carpenter syndrome
Malformation syndrome
2078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078
Geroderma osteodysplastica
Malformation syndrome
2097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097
Grant syndrome
Malformation syndrome
2324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324
Osteopenia-intellectual disability-sparse hair syndrome
Malformation syndrome
2786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786
Osteoporosis-oculocutaneous hypopigmentation syndrome
Malformation syndrome
2787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2787
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Malformation syndrome
2788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788
Osteoporosis-pseudoglioma syndrome
Disease
457378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378
Complex lethal osteochondrodysplasia
Malformation syndrome
53697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697
Gnathodiaphyseal dysplasia
Malformation syndrome
85191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191
Singleton-Merten dysplasia
Malformation syndrome
85192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192
Calvarial doughnut lesions-bone fragility syndrome
Malformation syndrome
85193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193
Idiopathic juvenile osteoporosis
Malformation syndrome
85194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Spondylo-ocular syndrome
Malformation syndrome
90350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350
Autosomal recessive cutis laxa type 2
Clinical group
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
357064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064
Autosomal recessive cutis laxa type 2B
Disease
166277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Malformation syndrome
230857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857
Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease
314667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667
TMEM165-CDG
Disease
319195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195
Chondroectodermal dysplasia with night blindness
Disease
391330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330
X-linked osteoporosis with fractures
Disease
498481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481
LRP5-related primary osteoporosis
Malformation syndrome
536467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
536532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532
Classical-like Ehlers-Danlos syndrome type 2
Disease
93447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447
Primary bone dysplasia with defective bone mineralization
Category
1416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416
Familial calcium pyrophosphate deposition
Disease
557003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003
Oculoskeletodental syndrome
Disease
436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436
Hypophosphatasia
Disease
247623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623
Perinatal lethal hypophosphatasia
Clinical subtype
247638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638
Prenatal benign hypophosphatasia
Clinical subtype
247651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651
Infantile hypophosphatasia
Clinical subtype
247667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667
Childhood-onset hypophosphatasia
Clinical subtype
247676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676
Adult hypophosphatasia
Clinical subtype
247685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685
Odontohypophosphatasia
Clinical subtype
417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417
Neonatal severe primary hyperparathyroidism
Disease
405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405
Familial hypocalciuric hypercalcemia
Disease
93372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372
Familial hypocalciuric hypercalcemia type 1
Etiological subtype
101049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049
Familial hypocalciuric hypercalcemia type 2
Etiological subtype
101050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050
Familial hypocalciuric hypercalcemia type 3
Etiological subtype
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
73230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230
Ossification anomalies-psychomotor developmental delay syndrome
Disease
79106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106
Eiken syndrome
Malformation syndrome
289098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098
Disorders of vitamin D metabolism
Category
437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437
Hypophosphatemic rickets
Clinical group
244305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Disease
1652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652
Dent disease
Disease
93623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623
Dent disease type 2
Clinical subtype
93622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622
Dent disease type 1
Clinical subtype
89936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936
X-linked hypophosphatemia
Disease
89937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937
Autosomal dominant hypophosphatemic rickets
Disease
157215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215
Hereditary hypophosphatemic rickets with hypercalciuria
Disease
289176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176
Autosomal recessive hypophosphatemic rickets
Disease
289103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103
Hypocalcemic rickets
Clinical group
93160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160
Hypocalcemic vitamin D-resistant rickets
Disease
289157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157
Hypocalcemic vitamin D-dependent rickets
Disease
93449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449
Primary osteolysis
Category
647667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667
Mandibuloacral dysplasia associated to MTX2
Malformation syndrome
498474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474
Hyaline fibromatosis syndrome
Disease
2028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Juvenile hyaline fibromatosis
Clinical subtype
2176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176
Infantile systemic hyalinosis
Clinical subtype
955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955
Hajdu-Cheney syndrome
Malformation syndrome
1952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Malformation syndrome
2457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457
Mandibuloacral dysplasia
Malformation syndrome
90153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153
Mandibuloacral dysplasia with type A lipodystrophy
Clinical subtype
90154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154
Mandibuloacral dysplasia with type B lipodystrophy
Clinical subtype
2774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774
Multicentric carpo-tarsal osteolysis with or without nephropathy
Malformation syndrome
2776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776
Autosomal recessive distal osteolysis syndrome
Malformation syndrome
740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740
Hutchinson-Gilford progeria syndrome
Disease
50809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809
Talo-patello-scaphoid osteolysis
Malformation syndrome
85195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195
Familial expansile osteolysis
Disease
280576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576
Nestor-Guillermo progeria syndrome
Malformation syndrome
352636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636
Phalangeal microgeodic syndrome
Disease
371428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428
Multicentric osteolysis-nodulosis-arthropathy spectrum
Disease
93450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450
Primary bone dysplasia with disorganized development of skeletal components
Category
73
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73
Gorham-Stout disease
Malformation syndrome
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337
Fibrodysplasia ossificans progressiva
Disease
595216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595216
Fibrous dysplasia/McCune-Albright syndrome
Clinical group
562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562
McCune-Albright syndrome
Disease
249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249
Fibrous dysplasia of bone
Malformation syndrome
93276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276
Polyostotic fibrous dysplasia
Clinical subtype
93277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277
Monostotic fibrous dysplasia
Clinical subtype
184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184
Cherubism
Malformation syndrome
1822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822
Dysplasia epiphysealis hemimelica
Malformation syndrome
1962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962
Exostoses-anetodermia-brachydactyly type E syndrome
Malformation syndrome
2770
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770
Nasu-Hakola disease
Malformation syndrome
2762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762
Progressive osseous heteroplasia
Malformation syndrome
296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Ollier disease
Disease
2499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499
Metachondromatosis
Malformation syndrome
2645
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645
Osteoglosphonic dysplasia
Malformation syndrome
2767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767
Carpotarsal osteochondromatosis
Malformation syndrome
2867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867
Short stature, Brussels type
Malformation syndrome
3019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019
Ramon syndrome
Malformation syndrome
3408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408
Upington disease
Malformation syndrome
321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321
Multiple osteochondromas
Disease
52430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Disease
53697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697
Gnathodiaphyseal dysplasia
Malformation syndrome
57782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782
Mazabraud syndrome
Malformation syndrome
85197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197
Genochondromatosis type 1
Disease
85198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198
Dysspondyloenchondromatosis
Malformation syndrome
93398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398
Genochondromatosis type 2
Disease
99646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Disease
99647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99647
Cheirospondyloenchondromatosis
Disease
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
329475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475
Spastic paraplegia-Paget disease of bone syndrome
Disease
93451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451
Cleidocranial dysplasia and isolated cranial ossification defect
Category
251290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290
Parietal foramina with clavicular hypoplasia
Malformation syndrome
1452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452
Cleidocranial dysplasia
Malformation syndrome
3034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034
Delayed membranous cranial ossification
Malformation syndrome
3472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472
Yunis-Varon syndrome
Malformation syndrome
60015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015
Enlarged parietal foramina
Malformation syndrome
85199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199
Craniosynostosis-anal anomalies-porokeratosis syndrome
Malformation syndrome
93465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465
Lethal chondrodysplasia
Category
1842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842
Bone dysplasia, lethal Holmgren type
Malformation syndrome
2347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347
Lethal Kniest-like dysplasia
Malformation syndrome
3003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003
Pyknoachondrogenesis
Malformation syndrome
1423
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423
Lethal recessive chondrodysplasia
Malformation syndrome
364531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364531
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Category
337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337
Fibrodysplasia ossificans progressiva
Disease
2762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762
Progressive osseous heteroplasia
Malformation syndrome
364559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364559
Dysostosis
Category
1531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531
Craniosynostosis
Category
139390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390
Non-syndromic craniosynostosis
Clinical group
620096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096
Non-syndromic unisutural craniosynostosis
Clinical group
620102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102
Non-syndromic unicoronal craniosynostosis
Morphological anomaly
620113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113
Non-syndromic unilambdoid craniosynostosis
Morphological anomaly
620139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139
Non-syndromic unifrontosphenoidal craniosynostosis
Morphological anomaly
620146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146
Non-syndromic unisquamosal craniosynostosis
Morphological anomaly
3366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366
Non-syndromic metopic craniosynostosis
Morphological anomaly
35093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093
Non-syndromic sagittal craniosynostosis
Morphological anomaly
620152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152
Non-syndromic multisutural craniosynostosis
Clinical group
620158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158
Non-syndromic non-specific multisutural craniosynostosis
Morphological anomaly
620178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178
Non-syndromic bilambdoid craniosynostosis
Morphological anomaly
620186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186
Non-syndromic unicoronal and sagittal craniosynostosis
Morphological anomaly
620192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192
Non-syndromic metopic and sagittal craniosynostosis
Morphological anomaly
620198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198
Non-syndromic bicoronal and metopic craniosynostosis
Morphological anomaly
620205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205
Non-syndromic bicoronal and sagittal craniosynostosis
Morphological anomaly
620212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212
Non-syndromic pansynostosis
Morphological anomaly
35099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099
Non-syndromic bicoronal craniosynostosis
Morphological anomaly
1516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516
Non-syndromic bilambdoid and sagittal craniosynostosis
Malformation syndrome
139393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393
Syndromic craniosynostosis
Category
65798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798
Goodman syndrome
Malformation syndrome
207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207
Crouzon syndrome
Malformation syndrome
1308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308
C syndrome
Malformation syndrome
87
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Apert syndrome
Malformation syndrome
83
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83
Antley-Bixler syndrome
Malformation syndrome
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
596008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Clinical subtype
1225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225
Baller-Gerold syndrome
Malformation syndrome
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
1527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527
Craniosynostosis, Philadelphia type
Malformation syndrome
1528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528
Craniotelencephalic dysplasia
Malformation syndrome
1540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540
Jackson-Weiss syndrome
Malformation syndrome
1553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553
Curry-Jones syndrome
Malformation syndrome
1555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Malformation syndrome
2145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145
Craniosynostosis, Herrmann-Opitz type
Malformation syndrome
2163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163
Holoprosencephaly-craniosynostosis syndrome
Malformation syndrome
2409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409
Lowry-MacLean syndrome
Malformation syndrome
2462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462
Shprintzen-Goldberg syndrome
Malformation syndrome
2872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872
Cardiocranial syndrome, Pfeiffer type
Malformation syndrome
3134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
SCARF syndrome
Malformation syndrome
3365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365
Trigonocephaly-broad thumbs syndrome
Malformation syndrome
3369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369
Trigonocephaly-short stature-developmental delay syndrome
Malformation syndrome
2898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898
X-linked intellectual disability-plagiocephaly syndrome
Malformation syndrome
1541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541
Craniosynostosis, Boston type
Malformation syndrome
1524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524
Craniomicromelic syndrome
Malformation syndrome
52054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054
Craniosynostosis-intracranial calcifications syndrome
Malformation syndrome
53271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271
Muenke syndrome
Malformation syndrome
247651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651
Infantile hypophosphatasia
Clinical subtype
85199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199
Craniosynostosis-anal anomalies-porokeratosis syndrome
Malformation syndrome
93262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262
Crouzon syndrome-acanthosis nigricans syndrome
Malformation syndrome
93267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267
Cloverleaf skull-multiple congenital anomalies syndrome
Malformation syndrome
247638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638
Prenatal benign hypophosphatasia
Clinical subtype
100978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Malformation syndrome
169163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163
Familial scaphocephaly syndrome
Category
1538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Malformation syndrome
168624
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624
Familial scaphocephaly syndrome, McGillivray type
Malformation syndrome
171839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Malformation syndrome
178377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377
Osteosclerosis-developmental delay-craniosynostosis syndrome
Malformation syndrome
221054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054
Acrocephalopolydactyly
Malformation syndrome
284149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149
Craniosynostosis-dental anomalies
Malformation syndrome
293925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925
Lethal occipital encephalocele-skeletal dysplasia syndrome
Malformation syndrome
247667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667
Childhood-onset hypophosphatasia
Clinical subtype
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
79213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Mucopolysaccharidosis
Category
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
2645
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645
Osteoglosphonic dysplasia
Malformation syndrome
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
3210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3210
Summitt syndrome
Malformation syndrome
369837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Malformation syndrome
313855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855
FGFR2-related bent bone dysplasia
Disease
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
293843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843
3MC syndrome
Malformation syndrome
2655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655
Thanatophoric dysplasia
Disease
1860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860
Thanatophoric dysplasia type 1
Clinical subtype
93274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274
Thanatophoric dysplasia type 2
Clinical subtype
763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Pycnodysostosis
Disease
1465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Coffin-Siris syndrome
Malformation syndrome
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
97297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297
Bohring-Opitz syndrome
Malformation syndrome
647681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681
Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Malformation syndrome
565858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Malformation syndrome
2332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332
KBG syndrome
Malformation syndrome
96169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169
Koolen-De Vries syndrome
Malformation syndrome
363958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958
17q21.31 microdeletion syndrome
Etiological subtype
363965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965
Koolen-De Vries syndrome due to a point mutation
Etiological subtype
1906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906
Fetal valproate spectrum disorder
Malformation syndrome
710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710
Pfeiffer syndrome
Malformation syndrome
93258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258
Pfeiffer syndrome type 1
Clinical subtype
93259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259
Pfeiffer syndrome type 2
Clinical subtype
93260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260
Pfeiffer syndrome type 3
Clinical subtype
794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Saethre-Chotzen syndrome
Malformation syndrome
65759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759
Carpenter syndrome
Malformation syndrome
66630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630
Congenital pseudoarthrosis of the clavicle
Disease
93453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453
Dysostosis with predominant craniofacial involvement
Category
1517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517
Cantú syndrome
Malformation syndrome
1794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794
Oculomaxillofacial dysostosis
Malformation syndrome
250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250
Frontonasal dysplasia
Clinical group
1519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519
SPECC1L-related hypertelorism syndrome
Malformation syndrome
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
1521
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521
Craniofrontonasal dysplasia-Poland anomaly syndrome
Malformation syndrome
1993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993
Pai syndrome
Malformation syndrome
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
1827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827
Acromelic frontonasal dysplasia
Malformation syndrome
228390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Malformation syndrome
306542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Malformation syndrome
391474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474
Frontorhiny
Malformation syndrome
398156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156
Oculoauriculofrontonasal syndrome
Malformation syndrome
488437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437
SIX2-related frontonasal dysplasia
Malformation syndrome
521308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Malformation syndrome
157832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832
Craniorhiny
Malformation syndrome
2549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549
Oculoauriculovertebral spectrum with radial defects
Malformation syndrome
2769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769
Familial osteodysplasia, Anderson type
Malformation syndrome
363705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705
Craniofaciofrontodigital syndrome
Disease
3291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291
Teebi-Shaltout syndrome
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
459061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Malformation syndrome
155896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896
Otomandibular dysplasia
Category
137888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888
Auriculocondylar syndrome
Malformation syndrome
141132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132
Oculo-auriculo-vertebral spectrum
Malformation syndrome
155899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899
Mandibulofacial dysostosis
Clinical group
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950
Acrodysostosis
Malformation syndrome
357158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Disease
443995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995
Mandibulofacial dysostosis with alopecia
Malformation syndrome
156202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202
Otomandibular dysplasia associated with monogenic syndromes
Category
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
1296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296
Lambert syndrome
Malformation syndrome
314555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Malformation syndrome
3262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262
Dobrow syndrome
Malformation syndrome
93454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454
Dysostosis with predominant vertebral and costal involvement
Category
2311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311
Autosomal recessive spondylocostal dysostosis
Malformation syndrome
1552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552
Currarino syndrome
Malformation syndrome
1393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393
Cerebrocostomandibular syndrome
Malformation syndrome
1394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394
Cerebrofaciothoracic dysplasia
Malformation syndrome
2206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206
Ankylosing vertebral hyperostosis with tylosis
Malformation syndrome
2482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482
Melhem-Fahl syndrome
Malformation syndrome
2759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759
Imperforate oropharynx-costovertebral anomalies syndrome
Malformation syndrome
2840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Malformation syndrome
1797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797
Autosomal dominant spondylocostal dysostosis
Malformation syndrome
3456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456
Wildervanck syndrome
Malformation syndrome
2062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062
Progressive non-infectious anterior vertebral fusion
Malformation syndrome
2345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345
Isolated Klippel-Feil syndrome
Malformation syndrome
66637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637
Diaphanospondylodysostosis
Malformation syndrome
85164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Disease
85200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85200
Ischiovertebral syndrome
Malformation syndrome
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
329191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191
Tall stature-long halluces-multiple extra-epiphyses syndrome
Disease
50817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50817
Duane anomaly-myopathy-scoliosis syndrome
Disease
447974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Malformation syndrome
505248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Malformation syndrome
453499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Malformation syndrome
352665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Etiological subtype
453504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Etiological subtype
93455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455
Patellar dysostosis
Category
2614
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614
Nail-patella syndrome
Malformation syndrome
1509
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509
Coxopodopatellar syndrome
Disease
2554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Ear-patella-short stature syndrome
Malformation syndrome
86789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789
Patella aplasia/hypoplasia
Morphological anomaly
293150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150
Familial clubfoot due to PITX1 point mutation
Etiological subtype
597749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749
KAT6B-related multiple congenital anomalies syndrome
Clinical group
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
85201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201
Genitopatellar syndrome
Malformation syndrome
597746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Malformation syndrome
364568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364568
Dysostosis with limb anomaly as a major feature
Category
488434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434
Camptodactyly syndrome, Guadalajara type 3
Malformation syndrome
3292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292
Tel Hashomer camptodactyly syndrome
Malformation syndrome
498477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498477
Ectrodactyly with and without other manifestations
Category
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
1897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897
EEM syndrome
Malformation syndrome
69085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085
Limb-mammary syndrome
Malformation syndrome
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
1118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118
Fibular aplasia-ectrodactyly syndrome
Malformation syndrome
1892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892
Ectrodactyly-polydactyly syndrome
Malformation syndrome
1406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Charlie M syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
2117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117
Hartsfield syndrome
Malformation syndrome
2439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439
Patterson-Stevenson-Fontaine syndrome
Malformation syndrome
2878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Malformation syndrome
2440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440
Isolated split hand-split foot malformation
Malformation syndrome
69028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028
Dysostosis with brachydactyly
Category
498451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451
Dysostosis with brachydactyly without extraskeletal manifestations
Category
1570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570
Symbrachydactyly of hands and feet
Malformation syndrome
633211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211
Preaxial digit brachydactyly-webbed fingers
Malformation syndrome
93388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388
Brachydactyly type A1
Malformation syndrome
93396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396
Brachydactyly type A2
Malformation syndrome
93394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394
Brachydactyly type A4
Malformation syndrome
93397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397
Brachydactyly type A7
Malformation syndrome
498602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602
Sugarman brachydactyly
Morphological anomaly
1487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487
Cooks syndrome
Malformation syndrome
2565
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565
Mononen-Karnes-Senac syndrome
Malformation syndrome
85169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169
Familial digital arthropathy-brachydactyly
Malformation syndrome
93382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382
Brachydactyly type A6
Malformation syndrome
93383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383
Brachydactyly type B
Malformation syndrome
140908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908
Brachydactyly type B2
Clinical subtype
572385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385
Brachydactyly type B1
Clinical subtype
93384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384
Brachydactyly type C
Malformation syndrome
93387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387
Brachydactyly type E
Malformation syndrome
1275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275
Brachydactyly-elbow wrist dysplasia syndrome
Malformation syndrome
1319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319
Camptobrachydactyly
Malformation syndrome
498454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454
Dysostosis with brachydactyly with extraskeletal manifestations
Category
589608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Disease
166035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035
Brachydactyly-short stature-retinitis pigmentosa syndrome
Malformation syndrome
364577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577
Intellectual disability-brachydactyly-Pierre Robin syndrome
Malformation syndrome
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
1001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001
2q37 microdeletion syndrome
Malformation syndrome
247262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262
Hyperphosphatasia-intellectual disability syndrome
Disease
1276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276
Brachydactyly-arterial hypertension syndrome
Malformation syndrome
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
2438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438
Hand-foot-genital syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
1278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278
Brachydactyly-preaxial hallux varus syndrome
Malformation syndrome
1465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Coffin-Siris syndrome
Malformation syndrome
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
1078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078
Thumb stiffness-brachydactyly-intellectual disability syndrome
Malformation syndrome
1292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292
Brachymorphism-onychodysplasia-dysphalangism syndrome
Malformation syndrome
1295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
Malformation syndrome
2911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911
Poland syndrome
Malformation syndrome
1858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858
Skeletal dysplasia-epilepsy-short stature syndrome
Malformation syndrome
2946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946
Brachydactyly-long thumb syndrome
Malformation syndrome
2956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956
Acrodysplasia scoliosis
Malformation syndrome
3433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Malformation syndrome
52056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056
Ulnar/fibula ray defect-brachydactyly syndrome
Malformation syndrome
93457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457
Non-syndromic limb reduction defect
Category
498457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457
Longitudinal limb defect
Category
2130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130
Hemimelia
Clinical group
93320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320
Ulnar hemimelia
Morphological anomaly
93321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321
Radial hemimelia
Morphological anomaly
93322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322
Tibial hemimelia
Morphological anomaly
93323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323
Fibular hemimelia
Morphological anomaly
294988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988
Congenital hypoplasia of thumb
Morphological anomaly
498461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461
Terminal transverse limb defect
Category
931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931
Acheiropodia
Morphological anomaly
973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Morphological anomaly
294925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925
Amelia
Clinical group
294967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967
Amelia of upper limb
Morphological anomaly
294969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969
Amelia of lower limb
Morphological anomaly
294971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971
Tetra-amelia
Morphological anomaly
295000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000
Constriction rings syndrome
Malformation syndrome
498491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491
Complete hemimelia
Category
294979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979
Congenital absence of both forearm and hand
Morphological anomaly
294981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981
Congenital absence of both lower leg and foot
Morphological anomaly
294983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983
Acheiria
Morphological anomaly
294986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986
Apodia
Morphological anomaly
294927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927
Intercalary limb defects
Clinical group
294975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975
Congenital absence of upper arm and forearm with hand present
Morphological anomaly
294977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977
Congenital absence of thigh and lower leg with foot present
Morphological anomaly
1987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987
Femoral agenesis/hypoplasia
Malformation syndrome
294973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973
Humeral agenesis/hypoplasia
Morphological anomaly
633228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228
Proximal femoral focal deficiency
Morphological anomaly
93458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Category
2913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913
Non-syndromic polydactyly
Category
498464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464
Non-syndromic preaxial polydactyly
Category
93336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336
Polydactyly of a triphalangeal thumb
Morphological anomaly
93337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337
Polydactyly of an index finger
Morphological anomaly
93338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338
Polysyndactyly
Morphological anomaly
93339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339
Polydactyly of a biphalangeal thumb and/or hallux
Morphological anomaly
498467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467
Non-syndromic postaxial polydactyly
Category
93334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334
Postaxial polydactyly type A
Morphological anomaly
93335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335
Postaxial polydactyly type B
Morphological anomaly
498470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470
Non-syndromic complex polydactyly
Category
295004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004
Central polydactyly
Morphological anomaly
498494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494
Mirror-image polydactyly
Morphological anomaly
90025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025
Non-syndromic syndactyly
Category
2498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498
Syndactyly type 8
Morphological anomaly
93402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402
Syndactyly type 1
Morphological anomaly
295187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187
Zygodactyly type 1
Clinical subtype
295189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189
Zygodactyly type 2
Clinical subtype
295191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191
Zygodactyly type 3
Clinical subtype
295193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193
Zygodactyly type 4
Clinical subtype
93403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403
Syndactyly type 2
Morphological anomaly
295195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195
Synpolydactyly type 1
Clinical subtype
295197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197
Synpolydactyly type 2
Clinical subtype
295199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199
Synpolydactyly type 3
Clinical subtype
93404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404
Syndactyly type 3
Morphological anomaly
93405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405
Syndactyly type 4
Morphological anomaly
93406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406
Syndactyly type 5
Morphological anomaly
157801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801
Mesoaxial synostotic syndactyly with phalangeal reduction
Morphological anomaly
295012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012
Syndactyly type 6
Morphological anomaly
295002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002
Hyperphalangy
Morphological anomaly
93459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459
Syndrome with synostosis or other joint formation defect
Category
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
1275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275
Brachydactyly-elbow wrist dysplasia syndrome
Malformation syndrome
1228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228
Banki syndrome
Malformation syndrome
1412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412
Tarsal-carpal coalition syndrome
Malformation syndrome
2760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760
OSLAM syndrome
Malformation syndrome
2900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900
Leri pleonosteosis
Malformation syndrome
3237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237
Multiple synostoses syndrome
Malformation syndrome
3246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246
Symphalangism with multiple anomalies of hands and feet
Malformation syndrome
3250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250
Proximal symphalangism
Malformation syndrome
3268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268
Radioulnar synostosis-microcephaly-scoliosis syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
71289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Malformation syndrome
3466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466
WT limb-blood syndrome
Disease
157808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808
Congenital pseudoarthrosis of the limbs
Morphological anomaly
295018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018
Congenital pseudoarthrosis of the tibia
Clinical subtype
295020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020
Congenital pseudoarthrosis of the femur
Clinical subtype
295022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022
Congenital pseudoarthrosis of the fibula
Clinical subtype
295024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024
Congenital pseudoarthrosis of the radius
Clinical subtype
295026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026
Congenital pseudoarthrosis of the ulna
Clinical subtype
199315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315
Familial clubfoot with or without associated lower limb anomalies
Malformation syndrome
238578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578
Familial clubfoot due to 17q23.1q23.2 microduplication
Etiological subtype
293144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144
Familial clubfoot due to 5q31 microdeletion
Etiological subtype
293150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150
Familial clubfoot due to PITX1 point mutation
Etiological subtype
228184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184
Heart-hand syndrome
Category
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
1342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342
Heart-hand syndrome type 3
Malformation syndrome
1350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350
Heart-hand syndrome type 2
Malformation syndrome
2946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946
Brachydactyly-long thumb syndrome
Malformation syndrome
168796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796
Heart-hand syndrome, Slovenian type
Malformation syndrome
228190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Malformation syndrome
319340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340
Carney complex-trismus-pseudocamptodactyly syndrome
Disease
294949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949
Joint formation defects
Category
3248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248
Distal symphalangism
Morphological anomaly
3265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265
Humero-radial synostosis
Morphological anomaly
3266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266
Humero-radio-ulnar synostosis
Morphological anomaly
3269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269
Congenital radioulnar synostosis
Morphological anomaly
295217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295217
Radio-ulnar synostosis, unilateral
Clinical subtype
295219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295219
Radio-ulnar synostosis, bilateral
Clinical subtype
94056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056
Humero-ulnar synostosis
Morphological anomaly
295213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295213
Humero-ulnar synostosis, unilateral
Clinical subtype
295215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295215
Humero-ulnar synostosis, bilateral
Clinical subtype
217059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059
Isolated congenital digital clubbing
Morphological anomaly
295028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028
Tibio-fibular synostosis
Morphological anomaly
294955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955
Syndrome with limb reduction defects
Category
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
496693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Malformation syndrome
3320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320
Thrombocytopenia-absent radius syndrome
Malformation syndrome
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
3103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103
Roberts syndrome
Malformation syndrome
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
1071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Malformation syndrome
1074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Clinical subtype
1072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Clinical subtype
1112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Malformation syndrome
1113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113
Aphalangy-syndactyly-microcephaly syndrome
Malformation syndrome
1972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972
Lethal faciocardiomelic dysplasia
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
1988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988
Femoral-facial syndrome
Malformation syndrome
2063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063
Splenogonadal fusion-limb defects-micrognathia syndrome
Malformation syndrome
2249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249
Ulna hypoplasia-intellectual disability syndrome
Malformation syndrome
2307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307
IVIC syndrome
Malformation syndrome
2310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310
Absence deformity of leg-cataract syndrome
Malformation syndrome
2329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329
Karsch-Neugebauer syndrome
Malformation syndrome
2564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564
Tetramelic monodactyly
Malformation syndrome
2639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639
Fibular aplasia-complex brachydactyly syndrome
Malformation syndrome
2730
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730
Postaxial tetramelic oligodactyly
Malformation syndrome
2839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839
Pelvis-shoulder dysplasia
Malformation syndrome
2854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Fuhrmann syndrome
Malformation syndrome
2878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Malformation syndrome
2879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879
Phocomelia, Schinzel type
Malformation syndrome
3015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015
Radio-renal syndrome
Malformation syndrome
3016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016
Absent radius-anogenital anomalies syndrome
Malformation syndrome
3021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021
RAPADILINO syndrome
Malformation syndrome
3138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138
Ulnar-mammary syndrome
Malformation syndrome
3301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301
Tetraamelia-multiple malformations syndrome
Malformation syndrome
3312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312
Thalidomide embryopathy
Malformation syndrome
3328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Absent tibia-polydactyly-arachnoid cyst syndrome
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
3383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383
Humerus trochlea aplasia
Malformation syndrome
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
93293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293
Okihiro syndrome
Malformation syndrome
261638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to 20q13 microdeletion
Etiological subtype
261647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647
Okihiro syndrome due to a point mutation
Etiological subtype
93333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333
Pelviscapular dysplasia
Malformation syndrome
238744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744
Mammary-digital-nail syndrome
Malformation syndrome
329319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319
Thrombocythemia with distal limb defects
Disease
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
1891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891
Intellectual disability-spasticity-ectrodactyly syndrome
Malformation syndrome
2492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492
FATCO syndrome
Malformation syndrome
508542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease
221139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139
Combined immunodeficiency with facio-oculo-skeletal anomalies
Disease
1326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326
Camptodactyly syndrome, Guadalajara type 2
Malformation syndrome
1354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354
Heart defects-limb shortening syndrome
Malformation syndrome
294957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957
Dysostosis with combined reduction defects of upper and lower limbs
Category
1027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027
Autosomal recessive amelia
Malformation syndrome
1118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118
Fibular aplasia-ectrodactyly syndrome
Malformation syndrome
1121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121
Radial deficiency-tibial hypoplasia syndrome
Malformation syndrome
1122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122
Ulnar hypoplasia-split foot syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
2019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019
Femur-fibula-ulna complex
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
294959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Category
658805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805
Greig cephalopolysyndactyly-contiguous gene syndrome
Disease
567502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Disease
85203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203
Acropectoral syndrome
Malformation syndrome
93409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409
Brachydactyly-syndactyly, Zhao type
Malformation syndrome
140952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
357332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Malformation syndrome
369979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Malformation syndrome
420584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957
Acropectorovertebral dysplasia
Malformation syndrome
1003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003
Scalp defects-postaxial polydactyly syndrome
Malformation syndrome
1113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113
Aphalangy-syndactyly-microcephaly syndrome
Malformation syndrome
1388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388
Catel-Manzke syndrome
Malformation syndrome
1527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527
Craniosynostosis, Philadelphia type
Malformation syndrome
1566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566
Dandy-Walker malformation-postaxial polydactyly syndrome
Malformation syndrome
1757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757
Fibular dimelia-diplopodia syndrome
Malformation syndrome
1892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892
Ectrodactyly-polydactyly syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380
Greig cephalopolysyndactyly syndrome
Malformation syndrome
2110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110
Hallux varus-preaxial polysyndactyly syndrome
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
2378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378
Laurin-Sandrow syndrome
Malformation syndrome
2854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Fuhrmann syndrome
Malformation syndrome
2917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917
Polydactyly-myopia syndrome
Malformation syndrome
2920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920
Oliver syndrome
Malformation syndrome
2935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935
Crossed polysyndactyly
Malformation syndrome
2947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947
Triphalangeal thumbs-brachyectrodactyly syndrome
Malformation syndrome
2957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957
Guttmacher syndrome
Malformation syndrome
3004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Malformation syndrome
3168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168
Sillence syndrome
Malformation syndrome
3172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172
Eyebrow duplication-syndactyly syndrome
Malformation syndrome
3246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246
Symphalangism with multiple anomalies of hands and feet
Malformation syndrome
3255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255
Filippi syndrome
Malformation syndrome
3258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258
Cenani-Lenz syndrome
Malformation syndrome
3328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Absent tibia-polydactyly-arachnoid cyst syndrome
Malformation syndrome
3259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259
Syndactyly-polydactyly-ear lobe syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
2492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492
FATCO syndrome
Malformation syndrome
476119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Malformation syndrome
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
364198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198
Bipartite talus
Morphological anomaly
364571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364571
Dysostosis with limb and face anomalies as a major feature
Category
2749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749
Oromandibular-limb hypogenesis syndrome
Clinical group
1406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Charlie M syndrome
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
141163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163
Glossopalatine ankylosis
Malformation syndrome
199332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332
Endocrine-cerebro-osteodysplasia syndrome
Malformation syndrome
364574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364574
Acrofacial dysostosis
Clinical group
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949
Acrocraniofacial dysostosis
Malformation syndrome
952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952
Acrofacial dysostosis, Weyers type
Malformation syndrome
1131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131
X-linked mandibulofacial dysostosis
Malformation syndrome
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
1784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784
Acrofrontofacionasal dysostosis
Malformation syndrome
1786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786
Acrofacial dysostosis, Catania type
Malformation syndrome
1788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788
Acrofacial dysostosis, Rodríguez type
Malformation syndrome
2439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439
Patterson-Stevenson-Fontaine syndrome
Malformation syndrome
1827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827
Acromelic frontonasal dysplasia
Malformation syndrome
1787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787
Acrofacial dysostosis, Palagonia type
Malformation syndrome
64542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542
Acrofacial dysostosis, Kennedy-Teebi type
Malformation syndrome
79113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113
Mandibulofacial dysostosis-microcephaly syndrome
Malformation syndrome
3102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102
Richieri Costa-Pereira syndrome
Malformation syndrome
2793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793
Otoonychoperoneal syndrome
Malformation syndrome
3023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023
External auditory canal atresia-vertical talus-hypertelorism syndrome
Malformation syndrome
1321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Malformation syndrome
1323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323
Camptodactyly-joint contractures-facial skeletal defects syndrome
Malformation syndrome
399158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399158
Osteonecrosis
Category
566943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566943
Mueller-Weiss syndrome
Disease
399319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399319
Osteochondrosis
Category
2380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380
Legg-Calvé-Perthes disease
Disease
3314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314
Thiemann disease, familial form
Disease
57196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196
Medial condensing osteitis of the clavicle
Disease
97332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332
Kienbock disease
Disease
97335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335
Osgood-Schlatter disease
Disease
97336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336
Panner disease
Disease
97337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337
Sinding-Larsen-Johansson disease
Disease
564003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564003
Osteochondrosis of the metatarsal bone
Disease
563991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563991
Osteochondrosis of the tarsal bone
Disease
399329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399329
Epiphysiolysis of the hip
Disease
444316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444316
Idiopathic phalangeal acro-osteolysis
Disease
2764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764
Osteochondritis dissecans
Disease
251262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262
Familial osteochondritis dissecans
Disease
399164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399164
Avascular necrosis
Category
399169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399169
Secondary avascular necrosis
Category
399175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399175
Traumatic avascular necrosis
Disease
399180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399180
Secondary non-traumatic avascular necrosis
Disease
399185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399185
Rare hereditary disease with avascular necrosis
Category
232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232
Sickle cell anemia
Disease
77259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259
Gaucher disease type 1
Clinical subtype
77261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261
Gaucher disease type 3
Clinical subtype
217454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454
Rare hereditary thrombophilia
Clinical group
743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743
Severe hereditary thrombophilia due to congenital protein S deficiency
Disease
745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745
Severe hereditary thrombophilia due to congenital protein C deficiency
Disease
82
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82
Hereditary thrombophilia due to congenital antithrombin deficiency
Disease
217467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Disease
399293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399293
Osteonecrosis of the jaw
Disease
399302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399302
Primary avascular necrosis
Clinical group
86820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820
Familial avascular necrosis of femoral head
Disease
399307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399307
Idiopathic avascular necrosis
Disease
521127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521127
Osteoradionecrosis of the mandible
Disease
645822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645822
Primary bone and joint tuberculosis
Disease
647823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647823
Idiopathic pregnancy-associated osteoporosis
Disease