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Cardiofaciocutaneous syndrome

Disease definition

A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (hypotonia, seizures), failure to thrive and intellectual disability.


Classification level: Disorder
  • Synonym(s):
    • CFC syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • ICD-11: LD27.0Y
  • OMIM: 115150  615278  615279  615280
  • UMLS: C1275081
  • MeSH: C535579
  • GARD: 9146
  • MedDRA: 10082805

Detailed information

General public


Disease review articles

Genetic Testing

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