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Cardiofaciocutaneous syndrome

Disease definition

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

ORPHA:1340

  • Synonym(s):
    • CFC syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 115150  615278  615279  615280
  • UMLS: C1275081
  • MeSH: C535579
  • GARD: 9146
  • MedDRA: -

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