cardiofaciocutaneous syndrome (CFC syndrome)

Pathology

• heart defects include
  • pulmonic stenosis
  • atrial septal defects
  • hypertrophic cardiomyopathy

Genetics

• autosomal dominant
• associated with defects in MAP2K1 & MAP2K2 genes
• associated with defects in KRAS
• associated with defects in BRAF

Clinical manifestations

• distinctive facial appearance, heart defects & mental retardation
• some affected individuals present with ectodermal abnormalities such as
  • sparse, friable hair
  • hyperkeratotic skin lesions
  • generalized ichthyosis-like condition
• typical facial features are similar to Noonan syndrome, including
  • high forehead with bitemporal constriction
  • hypoplastic supraorbital ridges
  • downslanting palpebral fissures
  • depressed nasal bridge
  • posteriorly angulated ears with prominent helices

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/115150