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Does Marfan Syndrome Affect The Brain
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
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
Having the features: Features suggestive of marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... A person with several of these features can see a doctor for evaluation. ...Read moreSee 1 more doctor answer
Marfans: A karyotype of someone with Marfan's Syndrome would look no different than a normal karyotype. That is because Marfan's is caused by as little as one mutation to one gene (fibrillin-1), and this mutation would not be visible in a karyotype. It is a dominant trait and if one parent is affected, it may be passed to their child. ...Read more
PossibleI: While anything is possible, it's doubtful.Get a more detailed answer ›
No, but. . .: Marfan synd. Doesn't skip generations, but sometimes it's mild enough that the person who seemed to have skipped the disease actually had a mild case of it. Also, it is possible that a child of a marfan synd. Parent doesn't inherit the mutation (child is normal), but that child's child or grandchild gets a new mutation or marries a mild, undiagnosed marfan patient... Leading to future marfan kids. ...Read moreSee 1 more doctor answer
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