Cardiofaciocutaneous Syndrome 4

**Semantic type:** Disease or Syndrome

**Definition:** A type of cardiofaciocutaneous syndrome caused by autosomal dominantly inherited mutation(s) in the MAP2K2 gene, encoding dual specificity mitogen-activated protein kinase kinase 2. It is characterized by cardiac abnormalities, distinctive craniofacial features, cutaneous abnormalities, ocular abnormalities, neurologic and cognitive delays, short stature, and poor growth.

**Synonyms:** - CFC4