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Mesomelic dwarfism - cleft palate - camptodactyly

Orpha number ORPHA2631
Synonym(s) Reardon-Hall-Slaney syndrome
Prevalence -
Inheritance
  • Autosomal recessive
Age of onset -
ICD-10
  • Q78.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This 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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