Cardiofaciocutaneous syndrome

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Cardiofaciocutaneous syndrome
TermCardiofaciocutaneous syndrome
Short definitioncardiofaciocutaneous syndrome - (pronounced) (KAR-dee-oh-FAY-shee-oh-kyoo-TAY-nee-us SIN-drome) rare genetic condition that affects many parts of the body, particularly the heart, face, and skin. People with cardiofaciocutaneous syndrome typically have growth, development, and learning delays. 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


cardiofaciocutaneous syndrome - (pronounced) (KAR-dee-oh-FAY-shee-oh-kyoo-TAY-nee-us SIN-drome) rare genetic condition that affects many parts of the body, particularly the heart, face, and skin. People with cardiofaciocutaneous syndrome typically have growth, development, and learning delays. Other signs and symptoms include heart defects, an abnormally large head, unusual facial features, and problems with the skin, eyes, and gastrointestinal and nervous systems. People with cardiofaciocutaneous syndrome may also have thin, dry, curly hair and sparse or no eyelashes or eyebrows. Cardiofaciocutaneous syndrome is a type of disease called RASopathy and is caused by mutations (changes) in the BRAF, MAP2K1, MAP2K2, or KRAS gene. These genes make proteins involved in a cellular signaling pathway that controls many important cellular functions. Also called CFC syndrome

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