Cardiofaciocutaneous syndrome (CFC) is a rare autosomal dominant condition associated with mutations in the Ras/mitogen-activated protein kinase pathway that regulates cell differentiation, proliferation, and apoptosis. The majority of cases of CFC are caused by de novo gain of function mutations in BRAF, MEK1, MEK2, or, rarely, KRAS genes.
The worldwide prevalence of CFC is unknown. Men and women are equally affected.
CFC is characterized by a distinctive craniofacial appearance, cutaneous abnormalities, congenital heart defects, growth retardation, and intellectual disability.
Cardiofaciocutaneous syndrome in Child
Synopsis
Codes
ICD10CM:
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature
SNOMEDCT:
403770008 – Cardio-facio-cutaneous syndrome
Q87.19 – Other congenital malformation syndromes predominantly associated with short stature
SNOMEDCT:
403770008 – Cardio-facio-cutaneous syndrome
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Last Reviewed:07/06/2017
Last Updated:01/12/2022
Last Updated:01/12/2022
Cardiofaciocutaneous syndrome in Child
