Marfan's Syndrome Essay

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Marfan syndrome is a condition that alters the connective tissue, which is what provides the framework for growth and development in humans (Government, 2011). Marfan syndrome causes the connective tissue to behave incorrectly, which in turn affects many body systems including the eyes, heart, blood vessels, lungs, skeleton, nervous system and skin (Government, 2011). This syndrome is an inherited disorder transmitted as an autosomal dominant trait, and affects men, women and children of all races and ethnic backgrounds (Chen, 2011). Considered rather prevalent, Marfan syndrome affects an estimated 1 in 5,000 people (Government, 2011). This disorder results from a mutation in a gene located on chromosome 15 that tells the body to make fibrillin-1, which is a protein of importance in connective tissue ("National marfan foundation:," 2011). Due to this defect, the level of the protein entitled transforming growth factor beta (TGFB) is increased ("National marfan foundation:," 2011)., With an increase in TFGB there is significant damage to the tissue throughout the body("National marfan foundation:," 2011). A person with Marfan syndrome is born with the disorder; however symptoms may not be noticed until later on in their life (Government, 2011). Although the defect that results in Marfan’s Syndrome is located on the same gene, different characteristics are expressed in each individual (Government, 2011). This phenomenon is referred to as variable expression, and it is not yet known why this occurs within Marfan Syndrome (Government, 2011). Although everyone who is a holder of this disorder is affected differently, some common visual cues to this disorder are tall thin stature, disproportionally long legs and arms, curvature of the spine, stretch marks, and crowded teeth ("National marfan foundation:," 2011). However, not everyone expresses these and sometimes the

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