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Craniofacial conodysplasia

Disease definition

Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.

ORPHA:85168

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: No data available
  • ICD-10: Q87.5
  • OMIM: -
  • UMLS: C4303862
  • MeSH: -
  • GARD: -
  • MedDRA: -
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