Arterial Tortuosity Syndrome

MESHC565942

A hereditary autosomal recessive disorder characterized by abnormal twists and turns (tortuosity) of the arteries due to excessive elongation. Affected individuals are susceptible to ANEURYSM and arterial STENOSIS and may also have respiratory, eye, facial, skin, and joint abnormalities. Mutations in the SLC2A10 gene have been identified. OMIM: 208050