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Campomelic dysplasia

Disease definition

A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.


Classification level: Disorder
  • Synonym(s):
    • Campomelic dwarfism
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.1
  • ICD-11: LD2A.Y
  • OMIM: 114290  211990  602196
  • UMLS: C1861922
  • MeSH: D055036
  • GARD: 10027
  • MedDRA: -

Detailed information


Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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