Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Orpha code: 2631OMIM code: 249710

Definicja

A rare syndrome characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Mesomelic dysplasia, Kozlowski-Reardon type
Zespół Reardona, Halla i Slaney'a
Mesomelic dysplasia, Reardon type
Reardon-Hall-Slaney syndrome
Kod ORPHA
2631
Kod OMIM
249710
Kod ICD10
Q78.8
Kod ICD11
LD24.A

No additional description.

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