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Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Synonym(s) Reardon-Hall-Slaney syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q78.8
  • C2930871
MeSH -
MedDRA -


Disease definition

Mesomelic dwarfism-cleft palate-camptodactyly syndrome is 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.

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