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Campomelic dysplasia

What is Campomelic dysplasia?

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.

Other condition names

  • Campomelic dwarfism

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Antenatal
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.