Mesomelic dwarfism-cleft palate-camptodactyly syndrome

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Synonyms: Mesomelic dysplasia, Kozlowski-Reardon type | Mesomelic dysplasia, Reardon type | Reardon-Hall-Slaney syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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