Loeys-Dietz syndrome 2

Loeys-Dietz syndrome 2 is a rare inherited disorder that affects the body’s connective tissue. It is an autosomal dominant condition caused by changes in the TGFBR2 gene. This disorder shares some features with Loeys-Dietz syndrome type I, including enlargement of the aorta and other arteries, as well as arterial tortuosity. People with Loeys-Dietz syndrome 2 often show skin differences, such as velvety skin, and usually have less severe or absent skeletal signs compared to type I. This summary is based on current, limited information and may be updated as research continues.

Common symptoms in people with Loeys-Dietz syndrome 2 include enlargement of the aorta and other arteries, and twisting (tortuosity) of the arteries. They may also have skin abnormalities like velvety skin. Skeletal signs, which are more common in other types of Loeys-Dietz syndrome, are typically less severe or may not be present in type 2.

Loeys-Dietz syndrome 2 is caused by mutations in the TGFBR2 gene. The condition is inherited in an autosomal dominant pattern, meaning that a change in just one copy of the gene can lead to the disorder. This genetic change affects the connective tissue in the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.