CFC Syndrome
| CFC Syndrome | |
|---|---|
| Term | CFC Syndrome |
| Short definition | CFC Syndrome - rare genetic condition that affects many parts of the body, particularly the heart, face, and skin. People with CFC syndrome typically have growth, development, and learning delays. |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
CFC Syndrome - rare genetic condition that affects many parts of the body, particularly the heart, face, and skin. People with CFC 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 CFC syndrome may also have thin, dry, curly hair and sparse or no eyelashes or eyebrows. CFC 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 cardiofaciocutaneous syndrome
External links
- Medical encyclopedia article on CFC Syndrome
- Wikipedia's article - CFC Syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski