Marfan’s SyndromeBy Charlotte Hauser

& Nancy Moemen

Table of Contents:

Definition Symptoms:

› The Skeleton› The Eye› The Skin

Treatment Genes Bibliography

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Definition

Marfan’s Syndrome is a medical condition that is classified as a heritable disorder of the connective tissue within the body.

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Symptoms: The Skeleton Tall Slender Loose jointed/ limber Arms, legs, fingers and toes are disproportionately long

when compared to the trunk size Flat foot arch Pronation in feet Abnormal spine curvature (double “S” shape) Roof of mouth is high arched Teeth are over-crowded Face is long and narrow Infants have deep-set eyes and appear older and

typically two times wiser than normal infants

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Symptoms: The Eye

Off center Sometimes dislocated

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Symptoms: The Skin

Stretch marks Straie

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Treatments for Marfan’s Syndrome

There is no actual cure for Marfan’s syndrome when it is diagnosed.

Hypothetically, Marfan’s syndrome would be cured by altering the fibrillin gene, which is responsible for the condition. However, the condition is expressed early in the embryonic life and so doing so would be difficult.

Management and treatment of the syndrome is best approached by going for frequent checks up on the eyes, heart and teeth in order to prevent problems that Marfan’s can cause.

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Genes

Marfan’s syndrome is inherited through the genes; specifically chromosome number 15.

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Bibliography

Genetic Disorders Sourcebook v.13

http://www.americanheart.org/presenter.jhtml?identifier=4672

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