Mesomelic dwarfism-cleft palate-camptodactyly syndrome

MONDO:0009589

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: Reardon-Hall-Slaney syndrome, mesomelic dysplasia, Kozlowski-Reardon type, mesomelic dysplasia, Reardon type, mesomelic dwarfism cleft palate camptodactyly, mesomelic limb shortening and bowing

0 clinical trials for this condition and its sub-types, 0 tagged with Mesomelic dwarfism-cleft palate-camptodactyly syndrome itself.

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↑ Syndromic disease (7133) ↑ Skeletal dysplasia (660) ↑ Multiple congenital anomalies/dysmorphic syndrome without intellectual disability (163)

Including sub-types (0) Tagged with Mesomelic dwarfism-cleft palate-camptodactyly syndrome (0)

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