I was diagnosed with marfan syndrome when I was 13. I have myopia, scoliosis, rmvp, hypertention, hypermobile joints, pectus carrinautim, reumatoid arthritis... Etc... My question is... I'm now 28 and i'm quetioning my diagnosis. I know I have everything, but I have never really been extremely tall, i'm 5'11"... I've always been skinny, but since college I have gained wight, I am now very much overwight and trying to get that under control. Is it possible to have marfan and not be skinny and not be really tall? Also, I don't have extremely long arms and fingers, they are pretty proportionate to my body... Only other thing I can think of is that I do have joint and bone problems and I have a maliofacial deformiy (strangly pionty ears, I make a good elf or Dr. Spock for holloween w/o effort on the ears :-)) I have always been under the impression that I had it... From my dr's, but my current Dr. (w/o a detailed look) thinks I don't have marfan syndrome b/c i'm not skinny and tall.. In her words, "she thinks I could be a carrier and only have some traits"? I didn't think there was a such thing, either you have it or you don't. I'm checked annually for aotric and mvp issues, size increase etc... Only minimal incrase since age 13... About double, but still within good rage (at 13 the dr's said I had a very small heart, like 1/2 normal size, and it could be to my advantage b/c of marfan) I guess, should I push the issue with my Dr. And be tested again, or should I find another Dr. Etc...?
Also, fyi, my grandmother died of an enlarged heart and had hypermoble joints and my uncle, her son, was supposedly found to have marfan syndrom after he died in a car accident... To my knowledge my dad didn't really have any sypmtoms... And that side of the family was always short and dunky, except for my and two of my uncles? Strange.
You could have it. My dad(grandfather...grandparents raised me) is short and averages size and has it. My biological mother is average height and very overweight and has it. I have tall 5' 11" and skinny but not sick skinny and I have it. My twin brother has it and he is VERY tall and a little heavier and my other brother has it and is VERY tall and quite over weight. Marfans is not picky....not everything shows up, that is why it is so hard to diagnose unless you are doing a genetic test. My whole family did the genetic testing so we know for sure.
My younger brother was diagnosed with marfan syndrome only after his daughter was diagnosed as a teenager. He is currently having two of his other children tested as he believes they may also have it and my sister is also showing signs but my doctor has assured me that I do not show any of the signs at all. My question is this.. is it possible for me to pass it to my children even if I do not have it? the reason I ask is because one of my children are showing signs of it, although they are not skinny, they are quite tall and have some of the other signs. I have not yet had them checked for heart abnormalities. Please advise if this is possible even if I do not have it myself.