CFC syndrome
CFC syndrome - (… SIN-drome) A rare genetic condition that affects many parts of the body, especially the heart, face, and skin. People with CFC syndrome usually have growth, developmental, and learning delays. Other signs and symptoms include heart defects, an abnormally large head, unusual facial features, and problems with the skin, eyes, and the gastrointestinal and nervous systems. People with CFC syndrome may also have thin, dry, curly hair and sparse or no eyelashes or eyebrows. CFC syndrome is a type of disease called a RASopathy that is caused by mutations (changes) in the BRAF, MAP2K1, MAP2K2, or KRAS gene. These genes make proteins involved in a cell signaling pathway that controls many important cell functions. Also called cardiofaciocutaneous syndrome.
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Contributors: Prab R. Tumpati, MD
