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Doctor insights on: When Is Marfan's Typically Diagnosed

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What tests are done to diagnose Marfan Syndrome?

What tests are done to diagnose Marfan Syndrome?

Multiple : There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation. ...Read more

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Dr. Scott McLean
327 doctors shared insights

Marfan Syndrome (Definition)

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


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I'm worried that I have Marfan syndrome, please help me diagnose myself?

I'm worried that I have Marfan syndrome, please help me diagnose myself?

Build a team: Marfan syndrome is a complex condition that requires a team of experts in genetics, ophthalmology, and cardiology to establish or exclude the diagnosis. A good place to start is with your primary care provider and with some help from the national marfan foundation. Their website has a section written especially for someone like you: http://www.Marfan.Org/marfan/2406/diagnosis#suspect. ...Read more

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Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Several 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... ...Read more

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Are cramps and more pain typically associated with marfan's syndrome?

Aches here and there: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. ...Read more

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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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Are there any personality traits typically associated with with Marfan syndrome?

Not that i kno of.: Tall, that's why tall girls who may get scholarship 2 play buckets R tested 4 Marfans. There R many complications if U have Marfans, & play sports. From heart 2 eyes & more. ...Read more

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Is hearing loss/ringing in the ears typically associated with marfan's syndrome?

No: Stickler syndrome, which has some features similar to those in marfan syndrome, is due to a different mutation. Stickler syndrome can be associated with hearing loss. ...Read more

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Can any doctor or hospital diagnose Marfan syndrome or do I have to go to a special clinic?

Depends: You can start with your primary care physician and then he or she can refer you to a specialist. You will want to see someone who has a lot of experience in diagnosing and treating marfan's. ...Read more

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What is marfans? Did abe lincoln and his sons have it?

MARFAN SYNDROME: Marfan syndrome is a genetic disorder which effects connective tissue. Abraham lincoln was previously thought to have suffered from marfan syndrome but more recent research suggests that his condition was actually multiple endocrine neoplasia type 2b. ...Read more