/Loeys-Dietz syndrome 2

Loeys-Dietz syndrome 2

Rare Disease

MONDO:0012427

Also Known As

Loeys-Dietz syndrome 2Loeys-Dietz syndrome caused by mutation in TGFBR2Loeys-Dietz syndrome type 2Loeys-Dietz syndrome type IITGFBR2 Loeys-Dietz syndromeLDS2Marfan syndrome, type IIMarfan syndrome, type II, formerlyaortic aneurysm, familial thoracic 3

Definition

A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.