What Is Marfan Syndrome and What Are the Symptons?

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XHeather Aarons E-mail:
amanda@newwavemktg.com
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Posts by the author (2) Posted by Heather Aarons on April 27, 2012 at 8:38 am

Marfan Syndrome is a connective tissue disorder that is caused by a mutation of the gene that encodes for a protein called fibrillin. This protein is important in the formation of the elastic fibers of connective tissue and individuals affected with Marfan Syndrome lack the full structural support provided by fibrillin. As a consequence, they suffer from weakened tissue and abnormalities in many structures, including the skeleton, lungs, eyes, heart and blood vessels. And it should not be confused with or related to the injectable dermal fillers used by radiesse Westchester experts to correct lost volume in skin.

Common visible signs of Marfan Syndrome include disproportionately long arms, legs, fingers, and toes in relation to the body, crowded teeth as a result of a arched mouth roof, curvature of the spine, protruding or indented breastbone, and nearsightedness or detached retinas. Marfan Syndrome is an autosomal dominant disorder; therefore, there is a one in two chance of an affected parent passing it on to their child. However, in about twenty-five percent of cases, Marfan Syndrome occurred in individuals with unaffected parents. This “genetic accidents” resulted from a mutation that occurred in the sperm or the egg cells of the unaffected parents.

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