Marfan s syndrome
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Marfan’s Syndrome. By Zishan Quader. Symptoms. Some of the following symptoms are: I. Skeletal symptoms Long slender and loose jointed bones Indentation of the sternum and scoliosis II. Optical symptoms Dislocation of eye lenses and blurred vision III. Cardiovascular symptoms

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Marfan’s Syndrome

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Marfan s syndrome

Marfan’s Syndrome

By Zishan Quader


Symptoms

Symptoms

Some of the following symptoms are:

I. Skeletal symptoms

Long slender and loose jointed bones

Indentation of the sternum and scoliosis

II. Optical symptoms

Dislocation of eye lenses and blurred vision

III. Cardiovascular symptoms

Abnormal valve movement when heart beats

Aortic Dilation, the stretching of the aorta

IV. Neurological symptoms

Dural Ectasia, when the membrane that surrounds the spinal cord stretches and wears away the backbone

V. Respiratory symptoms

Early emphysema

Snoring and collapsing of the lungs


Cause of marfan s syndrom

Cause of Marfan’sSyndrom

Marfan syndrome is caused by a defect(mutation) in the gene that determines the structure of fibrillin, a protein that is an important part of connective tissue.

Although everyone with Marfan syndrome has a defect in the same gene, the mutation is specific to each family and not everyone experiences the same characteristics to the same degree. 


Treatment

Treatment

There is no cure for Marfan syndrome. To develop one, scientists may have to identify and change the specific gene responsible for the disorder before birth.

The only treatment option available is to have regular checkups with doctors that specialize with the body systems being affected.


Testing and screening individuals

Testing and Screening Individuals

  • Currently the only way to test people for this disorder is through a clinical genetic test. The test will reveal whether or not the fibrillin gene is affected.


Percentage of population with syndrome

Percentage of Population with Syndrome

The Marfan syndrome affects men, women and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.


Societal issues

Societal Issues

The outlook of Marfan syndrome has recently improved. Early diagnosis and advances in medical technology have enhanced the quality of life for people with the Marfan syndrome and lengthened their lifespan. Doctors can now identify early risk factors which can help prevent or delay complications.


Bibliography

bibliography

  • Duplisea, David. "Marfan Syndrome." 2005. The National Marfan Foundation. 24 Feb. 2009 http://www.marfan.org/nmf/index.jsp .

  • "Marfan Syndrome Causes, Diagnosis, Symptoms, and Treatment on MedicineNet.com." 1996. 25 Feb. 2009 http://www.medicinenet.com/marfan_syndrome/article.htm.


Marfan s syndrome

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