Cardiofaciocutaneous Syndrome

Overview

Type of disease: Rare conditions

Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. This condition is caused by mutations in the BRAF, MAP2K1, or MAP2K2 gene. CFC syndrome is an autosomal dominant condition; but all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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