Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles and blood vessels. There are four types of the syndrome, labelled types I through IV, which are distinguished by their genetic cause. Type 1, Type 2, Type3 and Type4 are caused by mutations in the genes. The characteristics of this syndrome include early fusion of the skull bones, widely spaced eyes and cleft palate or split uvula. In some individuals with this syndrome, other physical abnormalities have been noted, including defects at birth in the heart and brain, osteoporosis, skin changes (such as translucent skin and/or easy bruising) and defects of the spine or chest.
HOW IS LOEYS-DIETZ SYNDROME DIAGNOSED?
The characteristic facial and physical features of this disease and genetic testing are what leads a paediatrician to diagnose this disorder.
HOW IS LOEYS-DIETZ SYNDROME TREATED?
Unfortunately, there is no available treatment for Loeys-Dietz Syndrome. Individual symptoms can be treated though, like helping repairing clubbed foot with surgery or therapy or even trying to help them with cognitive exercises. Avoiding strenuous exercises and eating healthy, help in managing the same.
DID YOU KNOW?
This lifelong condition has no cure and patients are at a high risk of death due to a aortic aneurysm.