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Common Signs Marfan's Syndrome
Marfan's syndrome is a genetic disorder caused by defects in a protein called fibrillin that, along with collagen, provides most of the structural support of our tissues. Individuals with Marfan's are often tall, lanky, have long arm spans, and are hyperflexible. The most serious complication of Marfan's is caused by defects in the wall of the aorta, the large blood vessel that leaves the heart and supplies the ...Read more
Marfan syndrome: Musculoskeletal anomalies like scoliosis (curvature of spine) long arms in proportion to height, protrusion of sternum, cardiovascular abnormalities like mitral valve prolapse or dilated aorta, dislocation of the lens of the eye. A medical geneticist or a general internist can generally make diagnosis and provide management. Thanks for trusting HealthTap! ...Read more
Www.marfan.org: Marfan syndrome is a genetic abnormality affecting the fbn1 gene. It is thought of as a "connective tissue" disease. People with marfan have varying levels of abnormalities of the skeleton, their heart, their eyes, and their lungs. The marfan foundation has a great website at www.Marfan.Org. At the site, there is important information about diagnosis, with recommendations. ...Read moreSee 1 more doctor answer
Quite varied...: Marfan syndrome is an inherited disorder that affects connective tissue. Symptoms can include: tall and slender build; disproportionately long arms, legs, fingers and toes; a breastbone that protrudes outward or dips inward; a high, arched palate and crowded teeth; heart murmurs; extreme nearsightedness; an abnormally curved spine; or flat feet. ...Read more
Marfan syndrome?: It is possible that you could have marfan's. See your doctor or a pediatric geneticist to see if you have any other stigmata. ...Read more
Not Entirely Common: Marfan's patients can have spontaneous collapse of the lungs (known as pneumothorax). I would not say it is very common but it can occur. Typically marfan's patients have small air pockets at the top of the lungs called blebs. These blebs can rupture causing an airleak into the space between the lung and the chest wall. The air pushes on the lung causing the collapse. ...Read moreSee 1 more doctor answer
I am able to do the hand signs for Marfan syndrome but wasn't diagnosed yet, can I just look like a marfan?
Doctors can evaluate: A person with a few of the marfan syndrome features can see a primary care doctor and a geneticist. The geneticist specializes in diagnosing genetic disorders such as marfan syndrome. A person has to have a certain number of signs & symptoms before he is diagnosed as marfan syndrome. If less than the minimum signs & symptoms, he may have marfanoid habitus (appearance) but not have marfan syndrome. ...Read moreSee 1 more doctor answer
Lots of things: We see high narrow palatal vaults in children with digit habits, sinus problems, enlarged t;a, and in those who inherit this shape from their parents. Seen in many syndromens. In children it's easy to fix. In adults the fix is a bit more complex. Ask your dentist to refer you to an orthodontic specialist who can evaluate how the skeletal and dental parts of your face come together and function. ...Read moreSee 2 more doctor answers
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