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Genetics Community
This patient support community is for discussions relating to a person’s predisposition to a variety of medical conditions such as Alzheimer’s, blood-clotting disorders, breast cancer, cystic fibrosis, diabetes, Marfan syndrome, and Ehlers-Danlos Syndrome.
Could it be Marfan?
by tonyt22, Oct 19, 2007 12:29PM
Hi, I am a 24yo male, 6ft and 12st5lb. I am concerned that I may have Marfan disease and that my mother does as well. Below are the reasons for my concern. My doctor has said he is not concerned that this is marfan's as I am not tall enough and don't have enough features.
My features are
long limbs and spidery fingers
arm span 1.025 that of height
US:LS ratio 0.86
high arched palate with slight crowding
stretch marks after puberty
have hypermobility in knee and thumb joints
positive wrist sign but not thumb sign
early puberty and reached maximum height at 14, I was also always a head taller than class mates through school until the later years
TMJ problems ie pain and clicking
multiple clicking and popping joints
clawed 2nd toes
My mother shares the same features and has suffered from frozen shoulder.
I must add that my vision is near perfect with the exception of a few floaters, as is my mothers.
I had an echocardiogram to check the chambers and valves a while back due to strange heart beats which turned out to be PVCs, the echo was fine but would the aortic root have been imaged on a standard echo of chambers and valves?
Really I am just looking for validation of my doctors claims that it is unlikely I have marfans based on my symptoms and family history which I must add has never had anyone die of heart disease?
Thanks
My features are
long limbs and spidery fingers
arm span 1.025 that of height
US:LS ratio 0.86
high arched palate with slight crowding
stretch marks after puberty
have hypermobility in knee and thumb joints
positive wrist sign but not thumb sign
early puberty and reached maximum height at 14, I was also always a head taller than class mates through school until the later years
TMJ problems ie pain and clicking
multiple clicking and popping joints
clawed 2nd toes
My mother shares the same features and has suffered from frozen shoulder.
I must add that my vision is near perfect with the exception of a few floaters, as is my mothers.
I had an echocardiogram to check the chambers and valves a while back due to strange heart beats which turned out to be PVCs, the echo was fine but would the aortic root have been imaged on a standard echo of chambers and valves?
Really I am just looking for validation of my doctors claims that it is unlikely I have marfans based on my symptoms and family history which I must add has never had anyone die of heart disease?
Thanks
Post Comment
100 bucks says your're a marfan
find a better doctor!
elhers danlos syndrome
hypermobility syndrome
if your doctor refused to address these issues, find one who will!!
also.. stay active, even if it causes you physical pain. if you don't you could very well fall into a very miserable rut.