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Cleidocranial dysplasia

Disease definition

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

ORPHA:1452

  • Synonym(s):
    • Cleidocranial dysostosis
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q74.0
  • OMIM: 119600  216330
  • UMLS: C0008928
  • MeSH: D002973
  • GARD: 6118
  • MedDRA: -

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