Loeys-Dietz syndrome 1

Loeys-Dietz syndrome 1 is a rare autosomal dominant disorder caused by mutations in the TGFBR1 gene. This condition affects the blood vessels and certain facial and skeletal features. People with this condition may experience weaknesses in the aorta and other arteries, which can include aneurysms, dissections, and unusual twisting (tortuosity) of the vessels. Other features of Loeys-Dietz syndrome 1 include widely spaced eyes (hypertelorism), a split uvula (bifid uvula), and early closure of skull bones. These signs help define the condition and may guide healthcare providers in diagnosing and monitoring the health of affected individuals.

People with this condition often show signs of vascular abnormalities. Common symptoms include enlarged or weakened arteries, which might lead to aneurysms or dissections. In addition, features such as widely spaced eyes, a bifid (split) uvula, and early fusion of the skull bones have been observed.

Loeys-Dietz syndrome 1 is caused by mutations in the TGFBR1 gene. It follows an autosomal dominant pattern, which means that a change in just one of the two copies of this gene can cause the condition. This genetic cause also means that it can be passed from one generation to the next.

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.