Ehlers-Danlos syndrome is a group of connective tissue disorders that are characterized by unstable, hypermobile joints, loose, “stretchy” skin, and tissue fragility. It is caused by a defect in the connective tissue. The fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to a gene mutation in collagen. What other names […]
Loeys-Dietz syndrome is a genetic disorder of connective tissue. Because connective tissue is found throughout the body, Loeys-Dietz syndrome features can occur in the heart, blood vessels, bones, joints, skin, and internal organs, such as the intestines, spleen, and uterus. Some Loeys-Dietz syndrome features are easy to see. Others features, such as heart and blood […]
People with Marfan syndrome frequently have problems with their heart and blood vessels. Sometimes, these problems are very serious. The most common complication affects the aorta (the main blood vessel carrying blood from the heart to the rest of the body). Heart valves may be affected as well. Less often, blood vessels other than the […]
Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems. In addition, people with mitral valve prolapse and artificial heart valves are at risk for endocarditis (infection of the heart and heart valves) when they have dental work, and should follow recommendations for […]
Marfan syndrome and some related disorders can affect the eyes in many ways, causing dislocated lenses and other eye problems that can affect your sight. Except for dislocated lenses, these eye problems also occur in the general population, which is why doctors do not always realize they are caused by Marfan syndrome. It is important […]
The nervous system—the brain and spinal column—are surrounded by fluid contained in a membrane called the dura, which is primarily made up of connective tissue. The enlargement of this membrane (and sometimes the presence of cysts) is referred to as dural ectasia. Dural ectasia is present in more than 60 percent of people who have […]
Marfan syndrome is a serious condition, and some complications are potentially life-threatening. Advances in medical care have made it possible for people with Marfan syndrome to live a normal lifespan if they are diagnosed and treated properly. What is Marfan syndrome? What causes Marfan syndrome? How is Marfan syndrome inherited? What are the features of […]
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