Cardiofaciocutaneous syndrome
| Cardiofaciocutaneous syndrome | |
|---|---|
| Term | Cardiofaciocutaneous syndrome |
| Short definition | 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. |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| 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
External links
- Medical encyclopedia article on Cardiofaciocutaneous syndrome
- Wikipedia's article - Cardiofaciocutaneous syndrome
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