Genetic Disorders Expert Forum
Another try.....Marfan's?
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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Another try.....Marfan's?

I posted here recently but have not had a response yet. Really hoping someone can give me some clarity. I am 27, 5'11, 130lbs, white male. I am tall, skinny, and cannot gain weight. My arms in particular are very skinny and gangly-looking. My arm span is two inches taller than my height, but the ratio is 1:03, short of the cutoff of 1:05 for Marfan's. I have a positive wrist test, but negative thumb test. I am wondering if I have Marfan's syndrome. This past year, for unrelated issue, I was seen by doctors and a cardiologist. I had several EKGs, a 48-hour holter monitor, chest x-rays, and a stress test. They all came back basically normal. I also had an echocardiogram, which I was told was also normal. I have never had any heart problems (knock on wood), other than occasional arrythmia and fast pulse. I would like an expert to give their opinion based on all of this? Do I have Marfans? Or just some of the characteristics? Can I rest easily that my aorta and heart are fine, based on all of the tests? This is driving me nuts and I would like some info! Thanks!
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There are different types of connective tissue disorders; many of which have symptoms that overlap. To be evaluated for an connective tissue disorder, such as Marfan syndrome, it is important to see a medical geneticist. A medical geneticist is a doctor that specializes in genetic conditions. It would be helpful to bring your medical records, such as your X-rays and echocardiograms report, to this visit. You can find a medical geneticist in your area at the American College of Medical Genetics website.
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