Cardiofaciocutaneous syndrome

MONDO:0015280

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

Also known as: CFC, CFC syndrome, cardiofaciocutaneous (CFC) syndrome, cardiofaciocutaneous syndrome, cardio-facio-cutaneous syndrome, congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure

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