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Marfan syndrome is named after Antoine Marfan, [11] the French pediatrician who first described the condition in 1896 after noticing striking features in a five-year-old girl. [ 12 ] [ 77 ] The gene linked to the disease was first identified by Francesco Ramirez at the Mount Sinai Medical Center in New York City in 1991.
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]
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 .
Today, it is thought that Marfan's patient (a five-year-old girl named Gabrielle) was affected by a condition known as congenital contractural arachnodactyly, and not Marfan's syndrome. [3] Further eponymous medical conditions named after Antoine Marfan include: Dennie–Marfan syndrome; Marfan's hypermobility syndrome; Marfan's law; Marfan's sign
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 ...
Joint hypermobility syndrome shares symptoms with other conditions such as Marfan syndrome, Ehlers-Danlos Syndrome, and osteogenesis imperfecta. Experts in connective tissue disorders formally agreed that severe forms of Hypermobility Syndrome and mild forms of Ehlers-Danlos Syndrome Hypermobility Type are the same disorder. [citation needed]
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome , people with CCA typically have an arm span that is greater than their height and very long fingers and toes . [ 2 ]
This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3]