Marfan syndrome

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Marfan syndrome, also called arachnodactyly, is a genetic disorder that causes the connective tissues to become weak and dysfunctional. These tissues, which include tendons, ligaments, cartilage, and bone, are important because they support the body and provide a framework for growth and development. Because connective tissues are found throughout the body, symptoms may develop in many body organs, including the eyes, bones, heart, blood vessels, skin, lungs, and nervous system.
The severity of disease symptoms varies from mild to severe. For instance, Marfan syndrome can be life threatening if it affects the aorta, the main artery that carries blood from the heart to the rest of the body. In such cases, the disorder causes the walls of the aorta to become weak, increasing the chance that the artery will enlarge, tear, or rupture (break open). In other cases, patients may not experience any noticeable symptoms.
Physical characteristics commonly associated with Marfan syndrome include a slender and tall body, loose joints, narrow face, and spinal or chest wall abnormalities, such as scoliosis. Some medical historians believe that Abraham Lincoln may have had Marfan syndrome, because he had many of these traits. However, Lincoln's physical features alone are not enough to determine whether he had the disorder.
Researchers estimate that Marfan syndrome affects at least one out of 5,000 people in the United States.
Although Marfan syndrome is a serious and potentially life-threatening condition, patients are able to live long, healthy lives with proper treatment. There is currently no cure for the disorder. Instead, treatment focuses on managing symptoms and preventing complications. Most people with Marfan syndrome are able to have children, although complications may occur during pregnancy, and parents may pass on the condition to their children.

Related Terms

Aneurysm, aortic aneurysm, aortic dissection, aortic rupture, arachnodactyly, autosomal dominant disorder, autosomal dominant trait, cataract, connective tissue, connective tissue disorder, detached retina, dural ectasia, endocarditis, fibrillin, Ghent criteria, glaucoma, heart surgery, mitral valve prolapse, retinal tears, scoliosis, spondylolisthesis, stretch marks.