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?
Medications to relieve pressure on the aorta, such as angiotensin receptor blockers can be prescribed to patients. Vascular surgery for arterial repairs to prevent aneurysms can be advised.
DID YOU KNOW?
Individuals with Loeys-Dietz Syndrome frequently develop immune system-related problems such as food allergies, asthma or inflammatory disorders such as eczema or inflammatory bowel disease. The mutated abnormal gene that causes Loeys-Dietz Syndrome is dominant and only one parent needs to pass the gene to a child in order for the syndrome to develop.