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Do you think i have marfan's syndrome?


Im 16 years old and i think my sister has marfan's syndrome. She has a dilated root aorta. I understand that people with marfans tend to be tall and have long limbs. My sister is relatively tall and she has long arms and fingers. I also have 2 friends diagnosed with marfans. Both are females, one is 5'8 and the other is 6' 1.. pretty dam tall.. I on the other hand have realllllly short arms, legs and i am only 5 '4, ive always been the one of the shortest if not the shortest kid in my classes. But i do have a heart murmur and a little leakage in my heart which i heard can be a symptom of marfans. i am realy curious to find out if i have marfans...because i wanna get back to competitive sports which is somethin people with marfans arent advised to do.
what do you think ? do i have marfans?

People with Marfan are typically tall, but not always. Here is a good web site for you.

http://www.marfan.org/nmf/GetContentRequ...

You don't give us enough information to really tell you if either you or sister have Marfan.

You are right that an enlarged aorta is a major symptom of marfan. However there must be other criteria met also, being tall alone isn't enough to say the skeletal system is affected. Being tall is typically part of it but not a requirement. Is the arm span greater than height? Is there any pectus involvement? overly flexible? scoliosis? etc. More of these have to be involved. The other major system that is used in diagnosis is eyes, typically loose lens or very near-sighted. Everybody is affected different so you really need to look at a checklist and eventually talk to a doctor about it.

A couple other things not mentioned include, but your notes bring to my mind are:
a- it is not found more in a certain sex, nationality...
b- it is extremely rare for 2 siblings to have marfan and not have an affected parent
c- even if it isn't marfan, it could be another connective disorder

I would suggest reading NMF's site marfan.org, and join a group online (MSN and Yahoo both have good groups, besides some private ones) and more of your questions can be answered directly. You could also go see your friends' doctor assuming he sees more than a couple marfan patients.

You have some type of heart problem it sounds like so I would be careful with competitive sports until a cardio says it is ok. I'm not sure if they would limit you just with MVP, but if aortic valve leaking maybe should.

Mystique is quite accurate, Not all people with Marfans are tall. one of my friends is only 5'2" but still has Marfans. You could always have genetic testing done for an accurate diagnosis. but if you ever want to just talk with people who do have it. feel free to contact me. I an the "owner" of one of those Yahoo groups and very active in another, and we would love to talk with you. I only come here to try to help, points mean nothing, so don't let any decision stop you from contacting me, we would be happy to answer any questions you might have.

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