Cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome
Definition
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 cardiofaciocutaneous (CFC) syndrome, cardiofaciocutaneous syndrome, CFC, CFC syndrome — per MONDO