Arterial tortuosity syndrome

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Arterial tortuosity syndrome (ATS) 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, however symptoms vary depending on the patient. Because ATS is so rare, not much is known about the disease.

It exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13.[1]

It is associated with GLUT10 (also known as SLC2A10)[2] and TGFBR2.[3]

Arterial tortuosity syndrome has an autosomal recessive pattern of inheritance.

References

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