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Common Symptoms Signs Marfan Syndrome
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'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
Long arms, fingers: Tall, thin appearance. Pigeon chest (pectus carinatum), long fingers (arachnodactyly), dilated aorta (seen on echocardiogram). Dislocated lens in the eye. Severe near sightedness. Scoliosis. Flat feet. High arched palate. Thin head with small cheekbones. Most symptoms involve heart, musculoskeletal and eyes. It is inherited in an autosomal dominant fashion. ...Read more
Rubbery body: How flexible is your body; how mobile are your joints; how large is your arms span. Discuss with your physician. ...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
Can you still have Marfan syndrome without haveing long limbs? I have all the other symptoms and my doctor thinks it's a possibility.
Unusual: Each patient with marfan syndrome has a different presentation. Without long limbs (arms/legs) it would be unusual to have true marfan syndrome, but those findings are not very important diagnostic criteria. The cardinal features aortic root dilation (aneurysm) and dislocated lenses. The website http://www.Marfan.Org is helpful to patients and physicians. ...Read moreSee 1 more doctor answer
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