Definition
 Symptoms:
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› The Skeleton
› The Eye
› The Skin
Treatment
 Genes
 Bibliography
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(click a topic to continue)
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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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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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Off center
 Sometimes dislocated
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Stretch marks
 Straie
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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.
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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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Marfan’s syndrome is inherited through
the genes; specifically chromosome
number 15.
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
Genetic Disorders Sourcebook v.13
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http://www.americanheart.org/presente
r.jhtml?identifier=4672
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