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Cardiofaciocutaneous syndrome

Orpha number ORPHA1340
Synonym(s) CFC syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
  • Q87.8
  • C1275081
  • C535579
MedDRA -


Cardiofaciocutaneous (CFC) syndrome is an ectodermal dysplasia syndrome (see this term) characterized by a wide variety of manifestations including cardiac defects, distinct craniofacial features, ectodermal anomalies (most commonly dry hyperkeratotic skin and sparse, thin hair), and moderate to severe developmental delay.

Expert reviewer(s)

  • Dr Maria Ines KAVAMURA

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Detailed information

Clinical genetics review
  • EN (2012)
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