Doctor insights on:
Does Marfan 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
Marfans/ehler danlos: Marfan syndrome is a connective tissue disorder, tissues that strengthen bodies structures. In most cases it is inherited condition, but approx 30% of patients have no family history tall arms and height, affects lungs, heart and aorta, eyes causing cataract, skin problems, and tissue covering the spinal chord. ...Read more
Genetic mutation: Marfan syndrome is caused by a gene mutation (in the fbn1 gene). A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue. ...Read moreSee 1 more doctor answer
Genetic disorder: Fbn1 gene controls connective tissue metabolism. If there are mutations or repeats, then marfa's will result. The symptoms are the result of malformed collagen. So dislocated lens in eye, heart valve problems, scoliosis, pneumothorax, artery problems may occur. Most cases are inherited, but occasionally marfan's occurs from a spontaneous mutation. This gene can be tested for in a blood specimen. ...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
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
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