3M syndrome
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(Orphanet:2616)
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3MC SYNDROME 1
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(OMIM:257920)
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ARTHROGRYPOSIS, DISTAL, TYPE 2A
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(OMIM:193700)
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Acro-pectoro-renal dysplasia
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(Orphanet:956)
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Acro-renal-ocular syndrome
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(Orphanet:959)
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Acrocraniofacial dysostosis
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(Orphanet:949)
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Acrofacial dysostosis, Catania type
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(Orphanet:1786)
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Acrofacial dysostosis, Palagonia type
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(Orphanet:1787)
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Alagille syndrome
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(Orphanet:52)
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Autosomal dominant Larsen syndrome
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(Orphanet:503)
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Autosomal dominant popliteal pterygium syndrome
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(Orphanet:1300)
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Autosomal dominant spondylocostal dysostosis
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(Orphanet:1797)
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Autosomal recessive multiple pterygium syndrome
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(Orphanet:2990)
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Autosomal recessive spondylocostal dysostosis
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(Orphanet:2311)
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Baller-Gerold syndrome
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(Orphanet:1225)
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Becker nevus syndrome
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(Orphanet:64755)
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CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III
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(OMIM:611929)
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CARPENTER SYNDROME 1
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(OMIM:201000)
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COFFIN-SIRIS SYNDROME
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(OMIM:135900)
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Camptodactyly syndrome, Guadalajara type 1
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(Orphanet:1327)
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Carpenter syndrome
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(Orphanet:65759)
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Coffin-Siris syndrome
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(Orphanet:1465)
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Disorder of sex development - intellectual deficit
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(Orphanet:2983)
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Dubowitz syndrome
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(Orphanet:235)
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Ehlers-Danlos syndrome due to tenascin-X deficiency
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(Orphanet:230839)
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Ehlers-Danlos syndrome, classic type
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(Orphanet:287)
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Focal dermal hypoplasia
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(Orphanet:2092)
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Fountain syndrome
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(Orphanet:3219)
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Freeman-Sheldon syndrome
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(Orphanet:2053)
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GLUTEAL MUSCLES, ABSENCE OF
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(OMIM:231970)
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Gorlin syndrome
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(Orphanet:377)
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HYPERTELORISM AND TETRALOGY OF FALLOT
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(OMIM:239711)
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Hennekam syndrome
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(Orphanet:2136)
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Incontinentia pigmenti
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(Orphanet:464)
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Isotretinoin syndrome
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(Orphanet:2305)
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Ito hypomelanosis
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(Orphanet:435)
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LEOPARD SYNDROME 1
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(OMIM:151100)
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Lethal Kniest-like dysplasia
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(Orphanet:2347)
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Lethal Larsen-like syndrome
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(Orphanet:2371)
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Microbrachycephaly - ptosis - cleft lip
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(Orphanet:2511)
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NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
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(OMIM:182940)
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Neural tube closure defect
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(Orphanet:268357)
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Neuronal intranuclear inclusion disease
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(Orphanet:2289)
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Nevus comedonicus syndrome
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(Orphanet:64754)
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Non-rhizomelic chondrodysplasia punctata
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(Orphanet:176)
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Noonan syndrome with multiple lentigines
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(Orphanet:500)
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Okihiro syndrome
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(Orphanet:93293)
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Osteopathia striata - cranial sclerosis
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(Orphanet:2780)
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Otopalatodigital syndrome
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(Orphanet:669)
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Pelvic dysplasia - arthrogryposis of lower limbs
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(Orphanet:2840)
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Pelvis-shoulder dysplasia
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(Orphanet:2839)
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Peters-plus syndrome
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(Orphanet:709)
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Prata-Liberal-Goncalves syndrome
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(Orphanet:2956)
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Renal-genital-middle ear anomalies
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(Orphanet:1092)
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Rhizomelic chondrodysplasia punctata
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(Orphanet:177)
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Rubinstein-Taybi syndrome due to CREBBP mutations
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(Orphanet:353277)
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SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
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(OMIM:613686)
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SPONDYLOSIS, CERVICAL
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(OMIM:184300)
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Sacrococcygeal dysgenesis association
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(Orphanet:1773)
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Spinocerebellar ataxia - dysmorphism
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(Orphanet:1185)
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Split hand - urinary anomalies - spina bifida
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(Orphanet:2437)
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Sprengel deformity
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(Orphanet:3181)
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THREE M SYNDROME 1
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(OMIM:273750)
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Tricho-oculo-dermo-vertebral syndrome
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(Orphanet:3354)
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White forelock with malformations
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(Orphanet:2475)
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Williams syndrome
|
(Orphanet:904)
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Zimmermann-Laband syndrome
|
(Orphanet:3473)
|