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Mesomelic dwarfism-cleft palate-camptodactyly syndrome
rareMesomelic 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.
- Identifiers
- MONDO:0009589 OMIM:249710Orphanet:2631
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySkeletal dysplasiaSyndromic disease
- Also known as
- mesomelic dwarfism cleft palate camptodactyly · mesomelic dysplasia, Kozlowski-Reardon type · mesomelic dysplasia, Reardon type · mesomelic limb shortening and bowing · Reardon-Hall-Slaney syndrome
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