Arterial tortuosity syndrome

Also known as: Arterial tortuosity syndrome

Recessive connective tissue disorder with elongated tortuous arteries and aneurysms.

Medical specialty: Cardiology
Subspecialty: Cardiology / Heritable aortic disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: SLC2A10

Etiology & mechanism

GLUT10 deficiency alters TGF-beta signaling.

Gene(s) involved (1)

SLC2A10

Symptoms & signs (8)

aneurysmsarterial stenosiselongated faceherniashyperextensible skinjoint laxitykeratoconustortuous arteries

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.