Capillary malformation-arteriovenous malformation syndrome
| Capillary malformation-arteriovenous malformation syndrome | |
|---|---|
| Term | Capillary malformation-arteriovenous malformation syndrome |
| Short definition | Capillary malformation-arteriovenous malformation syndrome - (pronounced) (KA-pih-layr-ee MAL-for-MAY-avoid-ar-TEER-ee-oh-VEE-nus MAL-for-MAY-avoid SIN-drome) rare genetic disorder that causes blood vessel abnormalities, including swelling of the capillaries (small blood vessels) near the surface of the skin. The swollen veins usually appear as small, round, pink, or red patches on the skin of the face, arms, and legs. |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
Capillary malformation-arteriovenous malformation syndrome - (pronounced) (KA-pih-layr-ee MAL-for-MAY-avoid-ar-TEER-ee-oh-VEE-nus MAL-for-MAY-avoid SIN-drome) rare genetic disorder that causes blood vessel abnormalities, including swelling of the capillaries (small blood vessels) near the surface of the skin. The swollen veins usually appear as small, round, pink, or red patches on the skin of the face, arms, and legs. They can appear at birth or develop during childhood. More serious blood vessel abnormalities affecting the skin, muscles, bones, spine, brain, and heart can also occur. These can lead to serious problems, including abnormal bleeding, migraines, seizures, and congestive heart failure. Capillary Malformation-Arteriovenous Malformation Syndrome is a type of disease called RASopathy and is caused by mutations (changes) in the RASA1 gene. This gene makes a protein involved in a cellular signaling pathway that controls many important cellular functions. Also called CM-AVM syndrome
External links
- Medical encyclopedia article on Capillary malformation-arteriovenous malformation syndrome
- Wikipedia's article - Capillary malformation-arteriovenous malformation syndrome
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