3M syndrome
|
(Orphanet:2616)
|
Achondroplasia
|
(Orphanet:15)
|
Acrocapitofemoral dysplasia
|
(Orphanet:63446)
|
Acrocraniofacial dysostosis
|
(Orphanet:949)
|
Acrofacial dysostosis, Rodriguez type
|
(Orphanet:1788)
|
Acromesomelic dysplasia, Hunter-Thomson type
|
(Orphanet:968)
|
Adamantinoma
|
(Orphanet:55881)
|
Alpha-mannosidosis
|
(Orphanet:61)
|
Antecubital pterygium syndrome
|
(Orphanet:2987)
|
Antley-Bixler syndrome
|
(Orphanet:83)
|
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis
|
(Orphanet:1112)
|
Axial mesodermal dysplasia spectrum
|
(Orphanet:1834)
|
Boomerang dysplasia
|
(Orphanet:1263)
|
Brachyolmia type 1, Hobaek type
|
(Orphanet:93301)
|
Brachyolmia type 1, Toledo type
|
(Orphanet:93303)
|
CODAS syndrome
|
(Orphanet:1458)
|
Campomelic dysplasia
|
(Orphanet:140)
|
Cartilage-hair hypoplasia
|
(Orphanet:175)
|
Caudal regression sequence
|
(Orphanet:3027)
|
Chondrodysplasia - disorder of sex development
|
(Orphanet:1422)
|
Cleidocranial dysplasia
|
(Orphanet:1452)
|
Cockayne syndrome
|
(Orphanet:191)
|
Coffin-Lowry syndrome
|
(Orphanet:192)
|
Coxo-podo-patellar syndrome
|
(Orphanet:1509)
|
Coxoauricular syndrome
|
(Orphanet:1508)
|
Craniofaciofrontodigital syndrome
|
(Orphanet:363705)
|
Craniolenticulosutural dysplasia
|
(Orphanet:50814)
|
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis
|
(Orphanet:171839)
|
Diaphanospondylodysostosis
|
(Orphanet:66637)
|
Dyggve-Melchior-Clausen disease
|
(Orphanet:239)
|
Dyssegmental dysplasia, Silverman-Handmaker type
|
(Orphanet:1865)
|
Ellis Van Creveld syndrome
|
(Orphanet:289)
|
Epispadias
|
(Orphanet:93928)
|
Eye defects - arachnodactyly - cardiopathy
|
(Orphanet:2725)
|
Femoral-facial syndrome
|
(Orphanet:1988)
|
Focal dermal hypoplasia
|
(Orphanet:2092)
|
Fraser syndrome
|
(Orphanet:2052)
|
Fuhrmann syndrome
|
(Orphanet:2854)
|
GAPO syndrome
|
(Orphanet:2067)
|
Genitopatellar syndrome
|
(Orphanet:85201)
|
Ghosal hematodiaphyseal dysplasia
|
(Orphanet:1802)
|
Goldblatt syndrome
|
(Orphanet:166272)
|
Grant syndrome
|
(Orphanet:2097)
|
Greenberg dysplasia
|
(Orphanet:1426)
|
Harrod syndrome
|
(Orphanet:2115)
|
Hurler syndrome
|
(Orphanet:93473)
|
Hypochondroplasia
|
(Orphanet:429)
|
Intellectual deficit - cataracts - calcified pinnae - myopathy
|
(Orphanet:3042)
|
Intellectual deficit, Buenos-Aires type
|
(Orphanet:3079)
|
Jeune syndrome
|
(Orphanet:474)
|
Kniest dysplasia
|
(Orphanet:485)
|
Kyphomelic dysplasia
|
(Orphanet:1801)
|
Larsen-like osseous dysplasia - short stature
|
(Orphanet:2370)
|
Lethal recessive chondrodysplasia
|
(Orphanet:1423)
|
Limb body wall complex
|
(Orphanet:2369)
|
Low birth weight - dwarfism - dysgammaglobulinemia
|
(Orphanet:2621)
|
Léri-Weill dyschondrosteosis
|
(Orphanet:240)
|
Mesomelic dysplasia, Savarirayan type
|
(Orphanet:85170)
|
Metachondromatosis
|
(Orphanet:2499)
|
Metaphyseal dysostosis - intellectual deficit - conductive deafness
|
(Orphanet:2502)
|
Metatropic dysplasia
|
(Orphanet:2635)
|
Microbrachycephaly - ptosis - cleft lip
|
(Orphanet:2511)
|
Microcephalic osteodysplastic primordial dwarfism type 2
|
(Orphanet:2637)
|
Microcephalic osteodysplastic primordial dwarfism types 1 and 3
|
(Orphanet:2636)
|
Microspherophakia - metaphyseal dysplasia
|
(Orphanet:2551)
|
Mosaic trisomy 8
|
(Orphanet:96061)
|
Mosaic trisomy 9
|
(Orphanet:99776)
|
Mucolipidosis type 3
|
(Orphanet:577)
|
Multiple epiphyseal dysplasia
|
(Orphanet:251)
|
Multiple osteochondromas
|
(Orphanet:321)
|
Myhre syndrome
|
(Orphanet:2588)
|
Nail-patella syndrome
|
(Orphanet:2614)
|
Occipital horn syndrome
|
(Orphanet:198)
|
Oculo-skeletal-renal syndrome
|
(Orphanet:2716)
|
Opsismodysplasia
|
(Orphanet:2746)
|
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa
|
(Orphanet:2653)
|
Osteocraniostenosis
|
(Orphanet:2763)
|
Osteodysplasty, Melnick-Needles type
|
(Orphanet:2484)
|
Osteogenesis imperfecta
|
(Orphanet:666)
|
Osteopathia striata - cranial sclerosis
|
(Orphanet:2780)
|
Otopalatodigital syndrome
|
(Orphanet:669)
|
Otopalatodigital syndrome type 2
|
(Orphanet:90652)
|
Parastremmatic dwarfism
|
(Orphanet:2646)
|
Pelvic dysplasia - arthrogryposis of lower limbs
|
(Orphanet:2840)
|
Pelvis-shoulder dysplasia
|
(Orphanet:2839)
|
Phocomelia, Schinzel type
|
(Orphanet:2879)
|
Platyspondylic dysplasia, Torrance type
|
(Orphanet:85166)
|
Polyneuropathy - intellectual deficit - acromicria - premature menopause
|
(Orphanet:2928)
|
Pseudoleprechaunism syndrome, Patterson type
|
(Orphanet:2976)
|
Pycnodysostosis
|
(Orphanet:763)
|
Pyknoachondrogenesis
|
(Orphanet:3003)
|
Pyle disease
|
(Orphanet:3005)
|
Renal-genital-middle ear anomalies
|
(Orphanet:1092)
|
Schinzel-Giedion syndrome
|
(Orphanet:798)
|
Schneckenbecken dysplasia
|
(Orphanet:3144)
|
Schwartz-Jampel syndrome
|
(Orphanet:800)
|
Short rib-polydactyly syndrome
|
(Orphanet:1505)
|
Short rib-polydactyly syndrome, Verma-Naumoff type
|
(Orphanet:93271)
|
Sillence syndrome
|
(Orphanet:3168)
|
Skeletal dysplasia - epilepsy - short stature
|
(Orphanet:1858)
|
Spondyloenchondrodysplasia
|
(Orphanet:1855)
|
Spondyloepimetaphyseal dysplasia with joint laxity
|
(Orphanet:93359)
|
Spondyloepimetaphyseal dysplasia, Irapa type
|
(Orphanet:93351)
|
Spondyloepimetaphyseal dysplasia, Shohat type
|
(Orphanet:93352)
|
Spondyloepiphyseal dysplasia tarda
|
(Orphanet:93284)
|
Spondylometaphyseal dysplasia, Schmidt type
|
(Orphanet:93316)
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
Spondyloperipheral dysplasia - short ulna
|
(Orphanet:1856)
|
Tetraamelia - multiple malformations
|
(Orphanet:3301)
|
Thanatophoric dysplasia
|
(Orphanet:2655)
|
Thanatophoric dysplasia type 1
|
(Orphanet:1860)
|
Thin ribs - tubular bones - dysmorphism
|
(Orphanet:1506)
|
Thoracolaryngopelvic dysplasia
|
(Orphanet:3317)
|
Thoracomelic dysplasia
|
(Orphanet:1803)
|
Trisomy 13
|
(Orphanet:3378)
|
Trisomy 18
|
(Orphanet:3380)
|
Upington disease
|
(Orphanet:3408)
|
Verloove Vanhorick-Brubakk syndrome
|
(Orphanet:3429)
|
Weismann-Netter syndrome
|
(Orphanet:3344)
|
Williams syndrome
|
(Orphanet:904)
|
Wolf-Hirschhorn syndrome
|
(Orphanet:280)
|
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
(Orphanet:163966)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|