Marfan Syndrome (gene FBN1)
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| Michel Phelps |
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Lincoln
The Disorder that i choose to study is called Marfan Syndrome (gene FBN1). Many famous people have this disorder some include president Lincoln and Michel Phelps |
What is it?
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| Difference between normal and people with Marfan syndrome. |
Marfan syndrome is a genetic disorder of the connective tissue. That is offten found in the heart blood vessels, bones and joints, and eyes.
Symptoms
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| A women effected by marfan Syndrome |
Symptoms of this syndrome causes long limbs, and loose joints, weak heart, and crowned teeth.
Cause
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| Chromosome 15(arrow showing where disorder occurs) |
Marfan Syndrom is cause with a mutation on the 15 chromosome, in the gene that tells the body how to make fibrillin-1( a protein that is important to connective tissue. As a result it causes the body to produce more TGFB,
which causes that symptoms.
Treatment
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| Eye glasses |
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| Back before and after correction |
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| Open Heart Surgery |
Treatment for Marfan syndrome varies from person to person, depending were it strikes in the body. Commonly, many victims have to wear corrective eye wear that helps reverse the effect of the loosing the eye muscles. The lose ligaments and convective tissues of the back, result in curving of the spine ,called scoliosis, when this occurs a victims doctors may suggest a brace for the back, and if the condition worsens may require corrective surgery of the spine.
Groups
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National Marfan Foundation Logo
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There are many organizations that support the people with Marfan syndrome, the most famous is the National Marfan Foundation. The NMF helps families effected by Marfan by supporting them financially with the cost of treatment for the effected members of their family. The Marfan Foundation also conducts reacher on the the syndrome and how to prevent it.
Citations
very nice complete knowledge about marfan syndrome very impressive
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marfan syndrome