Doctor insights on:
Does Marfan Syndrome Affect The Brain
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.See 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.See 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.
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.See 1 more doctor answer
Some similarities: Ehler-danlos syndrome is a group of disorders, caused by a different mutation than the one that causes marfan syndrome. Some types of ehler-danlos syndrome also have rupture of the aorta as a potential problem. Ehler-danlos patients can have some skeletal features similar to those of marfan patients.See 1 more doctor answer
Vascular grafting: Should one get an aneurysm related to Marfan, grafting can be very effective, otherwise grafting is rather superfluoius to the diagnosis
Marfans/ehler danlos: Both are mulisystem disorders that mostly affect the soft connective tissues. Eds caused by a defect in synthesis of collagen.It has hyperextensibility of skin and joints, early onset of osteoarthritis, hypotonia, deformity of spine marfan tall arms and height, affects lungs, heart and aorta, eyes causing cataract, skin problems, and tissue covering the spinal chord.
Not necessarily: Dural ectasia is one of the major ghent criteria for the diagnosis; present in around 60 percent of mfs patients. You stay away from certain activities (lifting heavy weights, etc) if your dr advice; those might make it worse. But please check www. Marfan. Org, and remember stanford and mayo clinic, among other centers, have dedicated departments and lots of research going on. Don t get discouraged!
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