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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 ]
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 .
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Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
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]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
At the same time, joint hypermobility syndrome was renamed as hypermobility spectrum disorder and redefined as a hypermobility disorder that does not meet the diagnostic criteria for hEDS, other types of Ehlers–Danlos Syndrome, or other heritable Connective Tissue Disorder (such as Marfan's, Loeys–Dietz, or osteogenesis imperfecta).
To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Engvall in 1986, [5] and mutations in the FBN1 gene cause Marfan syndrome. [6] [7] This protein is found in humans, and its gene is found on chromosome 15. At present more than 1500 different mutations have been described. [1] [7]