Marfan Syndrome Research Paper

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Marfan syndrome is a moderately common, autosomal dominant disorder that affects the body’s connective tissue. Being autosomal dominant means that only one mutated gene from one parent can cause this disorder. Connective tissue is the tissue that holds the body’s cells and organs together. This disorder often affects the heart and the aorta, but can also affect tissues found all around the body, like blood vessels, bones, joints, eyes, and the heart. Although, connective tissue is made of different kinds of proteins, the protein that Marfan Syndrome attacks is called fibrillin-1, as it causes a defect in the gene that makes fibrillin-1. This mutation causes an increase in a protein called TGF-β, or the transforming growth factor beta. Fibrillin…show more content…
The person is often very thin, lengthy, and tall, and has long arms, fingers, and legs. They can also have curvature of the sponge or a chest that sinks in or out. Flat feet, unknown stretch marks, crowded teeth, and very flexible joints can also be signs for having Marfan syndrome. Someone with this disorder often has an arm span that is greater than their height as well as a narrow, slender face and unusual flexibility known as hypermobility. Most of the signs of Marfan syndrome become more pronounced as they get older and those in the same family with Marfan can look different despite the shared disorder. It is often easier to diagnose adults rather than children because of this reason. Yet, Marfan syndrome is usually only easily diagnosable through the observable signs of the disorder. Sometimes patients will have very minor or few signs of the disorder, so their diagnosis may be missed or prolonged until they develop vision problems or more dangerous heart issues. Although Marfan syndrome does not affect mental processes or humans’ ability to learn, researchers found that clinical evidence proved that children with Marfan have “slightly higher rate of hyperactivity and attention-deficit disorder (ADD) than the general population.” This disorder affects both women and men equally, and is distributed quite equally among all ethnicities and

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