Loeys-Dietz Syndrome

Loeys-Dietz Syndrome (LDS) is a rare genetic disorder of the connective tissue, similar to Marfan Syndrome. It affects the blood vessels, bones, joints, ligaments, and muscles, as well as internal organs. Of most concern is the aorta, the largest artery of the heart. Since the disorder weakens the walls of blood vessels, the wall of the aorta may stretch and bulge (called an “aneurysm”) which may lead to a tear (an “aortic dissection”). Such aneurysms and dissections, as well as a tendency to twist and wind (called “arterial tortuosity”), can also occur elsewhere in the body.

Other signs of this disease are abnormal bruising and scarring. Some people develop hypertelorism (widely spaced eyes), strabismus (cross-eyes), bifid uvula (a split in the soft tissue that hangs from the back of the mouth), or cleft palate (a split in the roof of the mouth).

Individuals with LDS commonly have immune system-related issues such as asthma, food allergies, eczema, or inflammatory bowel disease.

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