Marfan Syndrome

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Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.
This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.
The defect of this “glue” leads to phenotypes such as a thin, lanky build, flexible joints, sunken eyes, a chest that is sunken in or bulges out, curvature of the spine to one side (scoliosis), and flat feet. There are other physical appearances associated with this syndrome, but these are the most commonly noticed. Doctors keep a close eye out for people who possess these abnormal features. The problems found internally, especially those related or concerning the heart and surroundi...

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...en fatal complication of Marfan syndrome. “ This research has shown that this medicine prevents aortic aneurysms in a mouse model. Studies are being done to determine if people can be helped with this drug. Other studies are being conducted that hopefully will lead scientists to a more thorough understanding of this disorder and how best to treat it. Since Marfan Syndrome is a lifelong disorder, this research will hopefully improve the lives of those who suffer from it.

Works Cited

. N.p.. Web. 9 Mar 2014.

NIAMS, . N.p.. Web. 9 Mar 2014. .

Thomas M. Maddox, M. WebMD, 2011. 0. .

Karen W., G. M. D.. N.p.. Web. 9 Mar 2014. .

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