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Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [ 6 ] [ 7 ] [ 1 ] Those with the condition tend to be tall and thin, with long arms, legs , fingers, and toes . [ 1 ]
Rheumatic fever (RF), Marfan's syndrome and the Ehlers–Danlos syndromes are other typical causes. [6] Mitral valve stenosis (MVS) can sometimes be a cause of mitral regurgitation (MR) in the sense that a stenotic valve (calcified and with restricted range of movement) allows backflow (regurgitation) if it is too stiff and misshapen to close ...
Marfan syndrome This page was last edited on 7 December 2024, at 09:29 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 License ...
The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue disorder. The Foundation also lobbies Congress to fund Marfan syndrome research and engages in its own fundraising activities. [1]
Haploinsufficiency model of dominant genetic disorders. A + is a normal allele. A − is a mutant allele with little or no function. In haplosufficiency (most genes), a single normal allele provides enough function, so A + A − individuals are healthy.
Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome. [11] It may also occur in Ehlers-Danlos Syndrome , neurofibromatosis type I , [ 12 ] ankylosing spondylitis , [ 1 ] and is associated with spondylolisthesis , vertebral fractures, [ 13 ] scoliosis , tumors or trauma .
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
Genetic diseases such as Turner's syndrome, Prader Willi, and Noonan syndrome can be marked by a less than 5th percentile height and weight since birth. [9] [10] [11] Other genetic disorders such as Marfan's syndrome and Klinefelter's syndrome are typically indicated by a height above the 90th percentile. [12] [13]