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Marfan Syndrome Chest
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
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
No: No associaton.Get a more detailed answer ›
Type IV can: Ehlers-danlos syndrome is a genetic disorder of the collagen fibers in the body (the stuff that keeps the tissues tough). There are several types. It is type IV which may lead to aneurysms, ruptures, or dissections. There are genetic tests that can be done to diagnose this. If you have it, regular screening of the large vessels (aorta) with a ct scan is recommended. ...Read moreSee 2 more doctor answers
Usually. Only: Severe disease affects intestinal vesselsGet a more detailed answer ›
No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read moreSee 1 more doctor answer
Could I have type 3 (hypermobility) ehlers danlos syndrome or hypermobility syndrome? My parents don't have eds.
Unlikely.: Ehlers danlos is an inherited condition, so if it doesn't run in your family, it's very unlikely that you have it. If your joints are unusually flexible you may just be more limber than normal. But if you are worried about it, see your doctor and find out for sure. ...Read moreSee 1 more doctor answer
Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read moreSee 1 more doctor answer
No, but. . .: Marfan synd. Doesn't skip generations, but sometimes it's mild enough that the person who seemed to have skipped the disease actually had a mild case of it. Also, it is possible that a child of a marfan synd. Parent doesn't inherit the mutation (child is normal), but that child's child or grandchild gets a new mutation or marries a mild, undiagnosed marfan patient... Leading to future marfan kids. ...Read moreSee 1 more doctor answer
Genetics: Ehlers-danlos is a genetic condition. There are no other known causes. ...Read more
Ehlers-Danlos: The frequency of ehlers-danlos syndrome (all types) has been reported as 1 per 5000 to 1 per 10, 000 in the population. The exact prevalence and incidence of ehlers-danlos syndrome is unknown. Ed is a family of conditions that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues. ...Read more
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