/Loeys-Dietz syndrome 1

Loeys-Dietz syndrome 1

Rare Disease

MONDO:0012212

Also Known As

Furlong syndromeLoeys-Dietz syndrome 1Loeys-Dietz syndrome caused by mutation in TGFBR1Loeys-Dietz syndrome type 1TGFBR1 Loeys-Dietz syndromeLDS1Loeys-Dietz aortic aneurysm syndromeaortic aneurysm, familial thoracic 5

Definition

A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.