Cardio-facio-cutaneous syndrome

Also known as: CFC syndrome

RASopathy with heart defects, sparse hair and ichthyosis.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric genetics
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: BRAF, KRAS, MAP2K1, MAP2K2

Etiology & mechanism

Activating RAS-MAPK pathway mutations.

Gene(s) involved (4)

BRAFKRASMAP2K1MAP2K2

Symptoms & signs (6)

cardiac defectsdevelopmental delayfeeding problemsichthyosisshort staturesparse curly hair

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