Noonan syndrome with multiple lentigines
| Noonan syndrome with multiple lentigines | |
|---|---|
| Term | Noonan syndrome with multiple lentigines |
| Short definition | non-toxic - (pronounced) (non-TOK-sik) Not harmful or destructive |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
Noonan syndrome with multiple lentigines - (pronounced) (NOO-now SIN-drome. . . MUL-tih-pu len-TIH-jih-neez) rare genetic condition that affects many parts of the body, particularly the skin, heart, inner ear, and genitals. It is characterized by small, dark brown spots on the skin called lentigines, which usually appear on the face, neck, and upper body by age 4 or 5. The number of lentigines can increase to thousands by puberty. Other signs and symptoms of this condition include heart defects, unusual facial features, genital abnormalities, and being shorter than average. People with this syndrome may also have hearing loss, an abnormally shaped chest, extra folds of skin in the neck, mild learning problems, and fertility problems. Noonan syndrome with multiple lentigines is a type of disease called RASopathy and is caused by mutations (changes) in the PTPN11, RAF1, BRAF, or MAP2K1 gene. These genes make proteins involved in a cellular signaling pathway that controls many important cellular functions. Noonan syndrome with multiple lentigines is sometimes referred to as LEOPARD syndrome
External links
- Medical encyclopedia article on Noonan syndrome with multiple lentigines
- Wikipedia's article - Noonan syndrome with multiple lentigines
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