Cardiofaciocutaneous syndrome

Also known as: CFC syndrome

RASopathy with heart defects, coarse facies and ectodermal anomalies.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: BRAF, KRAS, MAP2K1, MAP2K2

Etiology & mechanism

MAPK pathway activation.

Gene(s) involved (4)

BRAFKRASMAP2K1MAP2K2

Symptoms & signs (8)

atrial septal defectdry skinfeeding problemshypertrophic cardiomyopathyintellectual disabilitypulmonary stenosisseizuressparse hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.