Absent tibia - polydactyly
|
(Orphanet:988)
|
Acromesomelic dysplasia, Grebe type
|
(Orphanet:2098)
|
Acropectorovertebral dysplasia
|
(Orphanet:957)
|
Alopecia - contractures - dwarfism - intellectual deficit
|
(Orphanet:1005)
|
Apert syndrome
|
(Orphanet:87)
|
Autosomal recessive Robinow syndrome
|
(Orphanet:1507)
|
Banki syndrome
|
(Orphanet:1228)
|
Brachydactyly - elbow wrist dysplasia
|
(Orphanet:1275)
|
Brachydactyly type B
|
(Orphanet:93383)
|
Brachydactyly type B2
|
(Orphanet:140908)
|
Camptodactyly - joint contractures - facial skeletal defects
|
(Orphanet:1323)
|
Cardiospondylocarpofacial syndrome
|
(Orphanet:3238)
|
Cenani-Lenz syndrome
|
(Orphanet:3258)
|
Distal symphalangism
|
(Orphanet:3248)
|
Ellis Van Creveld syndrome
|
(Orphanet:289)
|
Fibular aplasia - complex brachydactyly
|
(Orphanet:2639)
|
Frontometaphyseal dysplasia
|
(Orphanet:1826)
|
Hand-foot-genital syndrome
|
(Orphanet:2438)
|
IVIC syndrome
|
(Orphanet:2307)
|
Mesoaxial synostotic syndactyly with phalangeal reduction
|
(Orphanet:157801)
|
Mesomelia-synostoses syndrome
|
(Orphanet:2496)
|
Mesomelic dwarfism, Reinhardt-Pfeiffer type
|
(Orphanet:2634)
|
Mesomelic dysplasia, Kantaputra type
|
(Orphanet:1836)
|
Microphthalmia with limb anomalies
|
(Orphanet:1106)
|
Mononen-Karnes-Senac syndrome
|
(Orphanet:2565)
|
Muenke syndrome
|
(Orphanet:53271)
|
Ophthalmomandibulomelic dysplasia
|
(Orphanet:2741)
|
Otopalatodigital syndrome
|
(Orphanet:669)
|
Otopalatodigital syndrome type 1
|
(Orphanet:90650)
|
Otopalatodigital syndrome type 2
|
(Orphanet:90652)
|
Otospondylomegaepiphyseal dysplasia
|
(Orphanet:1427)
|
Pfeiffer syndrome
|
(Orphanet:710)
|
Proximal symphalangism
|
(Orphanet:3250)
|
Roberts syndrome
|
(Orphanet:3103)
|
Ruvalcaba syndrome
|
(Orphanet:3121)
|
Spondylocarpotarsal synostosis
|
(Orphanet:3275)
|
Spondyloepimetaphyseal dysplasia, Irapa type
|
(Orphanet:93351)
|
Subaortic stenosis - short stature
|
(Orphanet:3191)
|
Waardenburg syndrome type 3
|
(Orphanet:896)
|