Arterial tortuosity syndrome

Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints.

It exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.

It is associated with GLUT10 (also known as SLC2A10) and TGFBR2.