Cardiofaciocutaneous Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay.

**Synonyms:** - CFC - CFC Syndrome - Cardiofaciocutaneous (CFC) Syndrome