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Marfan Syndrome

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It is a heterozygous dominant disorder; therefore, if ... aortic aneurysm. migraine headaches. dural ectasin. muscle cramps. osteoporosis. joint dislocations ... – PowerPoint PPT presentation

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Title: Marfan Syndrome


1
Marfan Syndrome
2
What is Marfan Syndrome?
  • Marfan Syndrome is a genetic disease found on
    Chromosome 15. It affects 1 in 10,000
    Americans, male and female from all races, with
    progressively faulty skeletons, hearts, eyes, and
    lungs.
  • It is a heterozygous dominant disorder
    therefore, if one of your parents carries the
    gene you have a 50 chance of acquiring the
    disease.
  • Researchers have long known it as a connective
    tissue disorder.

3
PHYSICAL CHARACTERISTICS
  • Tall, thin structure with disproportional, long
    arms
  • Long double, jointed fingers
  • Long, lower half of body
  • Curvature of the spine
  • Chest bone curves inward or outward
  • Myopia
  • Flatfeet

4
Complications
  • Hiatal hernia
  • lens detachment
  • retinal detachment
  • aortic aneurysm
  • migraine headaches
  • dural ectasin
  • muscle cramps
  • osteoporosis
  • joint dislocations
  • glaucoma
  • Myopia
  • cataracts
  • scoliosis
  • mital valve porlapse
  • pneumothorax
  • asthma
  • emphysema
  • recurring sinus infection
  • ambliopia(lazy eye)

5
  • Named for Dr. Antoine Marfan in 1896.
  • He diagnosed a 5 year old with long, slender
    fingers and limbs, and other skeletal
    abnormalities.

6
people
  • Abe Lincoln
  • Flo Hyman-Volleyball star
  • Chris Patton-Basketball player

7
DEATH
  • Sudden split of the aorta
  • Faulty fibrillin is the cause or the glue that
    holds you together

8
Is There a Cure for Marfan Syndrome?
  • There is no single, conclusive test to diagnose
    Marfan Syndrome.
  • Marfans are discouraged from heavy exercise,
    contact sports, and lifting.
  • Beta blockers are given to reduce the strain on
    the aorta.
  • Psychological counseling is often given to
    Marfans.

9
THE END!!!
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