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Common Signs 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 moreSee 1 more doctor answer
Partial: Turner syndrome occurs when a girl only has one x chromosome. Mosaic turner syndrome occurs when some of the cells in a girl have two x chromosomes and the rest have one x chromosome. Women with mosaic turner syndrome can have all of the same problems as women with turner syndrome, but the severity tends to be milder. Short stature, sterility, heart disease, and learning problems can all occur. ...Read moreSee 1 more doctor answer
Genetic mutation: Marfan syndrome is caused by a gene mutation (in the fbn1 gene). A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue. ...Read moreSee 1 more doctor answer
What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?
A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more
Varies.: There are very few "syndromes" with only one appearance, or have a unique characteristic that immediately allows diagnosis at a glance in all cases. Wolf-Hirschhorn Syndrome is so rare, most of us have never heard of it. Glad you asked, so I could find out too! Here's a helpful page https://en.wikipedia.org/wiki/Wolf%E2%80%93Hirschhorn_syndrome Also see http://tinyurl.com/plta2tl ...Read more
There are many: Many patients have multiple signs & symptoms, including (but not limited to): facial plethora, violet colored striae ("stretch marks"), high blood pressure, glucose intolerance, weight gain, facial roundness, weakness, and "central" obesity (i.e., in the truncal area). Acne, decreased libido, & menstrual irregularities are common. Detailed exam & testing are necessary to rule out related conditio. ...Read more
Dehydration: Risk include dehydration, loss of nutrients, diarrhea. Dumping syndrome usually results when high osmotic load such food from stomach meets mid intestines after gastric bypass surgery or other surgery involving intestines in which the duodenum ( first part of the intestine) is bypassed. Duodenum is made to handle that load but lower part of the gut is not and leads to severe diarrhea after eating. ...Read more
Can be no symptom: Left elbow pain is an odd one i've seen. Isolated, painless, exertional shortness of breath (dyspnea) is a fairly common but atypical presentation. Pain lasting for hours is very unusual but i've seen it. Painless confusion in the very elderly is another odd presentation that sometimes happens. Strange presentations tend to occur in the very elderly-young people are more typical. ...Read more
Yes: Eds is a disease of the connective tissue with several sub-types. The connective tissue layer of the arteries can be affected and this can lead to cystic medial necrosis. This is a degenerative disease of the media of the aorta and other arteries with loss of elastic tissue and muscle cells. It is a pathological substrate for aortic dissection. Not all people affected get cmn. ...Read moreSee 1 more doctor answer
Depends: The genetic type of hyper-mobility syndrome is rare. Sometimes post traumatic hyper-mobility is the result if ligament and joint injury, and can be treated by injection, therapy, splinting, and the newest laser therapies. People with weakness (like old polio or diabetes) can traumatize a joint by the way they walk, making the hyper-mobility progressive. ...Read more
What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more
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