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WebDe Tuinen van Appeltern Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications … Meer weergeven More than 30 signs and symptoms are variably associated with Marfan syndrome. The most prominent of these affect the skeletal, cardiovascular, and ocular systems, but all fibrous connective tissue throughout … Meer weergeven Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes fibrillin 1, a glycoprotein component of the extracellular matrix. Fibrillin-1 is essential for the proper formation of the extracellular matrix, including the … Meer weergeven Prior to modern cardiovascular surgical techniques and medications such as losartan, and metoprolol, the prognosis of those with … Meer weergeven Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature. Most individuals with MFS have another affected family member. About 75% of cases are inherited. On the other hand, about … Meer weergeven Diagnostic criteria of MFS were agreed upon internationally in 1996. However, Marfan syndrome is often difficult to diagnose in children, as they typically do not show … Meer weergeven There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades and is now similar to … Meer weergeven Marfan syndrome affects males and females equally, and the mutation shows no ethnic or geographical bias. Estimates indicate … Meer weergeven
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