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Mesomelic dwarfism-cleft palate-camptodactyly syndrome

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.

ORPHA:2631

  • Synonym(s):
    • Reardon-Hall-Slaney syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 249710
  • UMLS: C2930871
  • MeSH: -
  • GARD: 3552
  • MedDRA: -

Additional information

Further information on this disease

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