Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Definition
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized 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.
Also known as mesomelic dysplasia, Kozlowski-Reardon type, mesomelic dysplasia, Reardon type, Reardon-Hall-Slaney syndrome — per MONDO