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Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the body’s connective tissue. It was named for Drs. Bart Loeys and Hal Dietz, the Johns Hopkins University School of Medicine researchers who discovered the disorder in 2005.
The features of the disorder are similar to Marfan syndrome and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome was often previously diagnosed as Marfan due to these similarities.
Individuals with Loeys-Dietz often have aortic aneurysms and an abnormal organization of blood vessels. The aneurysms can rupture at a smaller size, leaving children with Loeys-Dietz syndrome at high risk of death if the aneurysms are not identified and treated early.
Many affected children also have characteristic physical and facial features that may be the first abnormality to be recognized. The disorder was recently subdivided into two types – LDS type I (LDSI) and type II (LDSII) – indicating the presence or absence of craniofacial involvement, respectively.
Typical craniofacial features include widespread eyes, early fusion of the skull bones, cleft palate, or a split uvula, the tissue hanging in the back of the throat. Some patients with Loeys-Dietz syndrome may have congenital heart and brain defects, osteoporosis, changes in the skin, and defects in the spine or chest.
There’s no cure for Loeys-Dietz syndrome, but its symptoms can be treated. Symptoms of the disorder can vary widely and affect patients differently. UT Southwestern Medical Center uses an individualized, multidisciplinary approach to treat Loeys-Dietz patients.
UT Southwestern is a leader in genetics research and applying the newest education and techniques in treating these disorders. Working with Children’s Health, we operate the North Texas region’s only Genetics and Metabolism Clinics that focus on the diagnosis and management of a variety of genetic conditions.
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