Marfan Syndrome

Susan Shriver

Discovery of Marfan Syndrome

The french doctor, Bernard J.A. Marfan, disvored Marfan Syndrome in 1896

Causes of Marfan Syndrome / Chromosome affected

A mutant gene. #15

Prenatal tests for Marfan Syndrome

Prenatal tests are now available for some people. Mostly for families with the mutant gene in it's family.

Symptoms

  • Long Arms, legs, and fingers
  • tall and thin body
  • curved spine
  • chest sinks in or sticks out
  • flexible joints
  • flat feet
  • crowded teeth
  • stretch marks on sides, but not related to weight loss or gain

Population affected

Marfan syndrome is not related to any certain ethnic groups. Any sex or ethnicity could be affected.

How is it inherited?

It is passed down through parents, and is dominant

Treatments, Cures, or upcoming cures

  • Has no cure.
  • Treatments are available that could delay or prevent symptoms
  • Treatment should be started early

Could it be prevented?

Scientists say that, 'blocking a protein called TGF-Beta may help prevent some effects of marfan syndrome'

citations

"Marfan Syndrome: How Is It Inherited?" Marfan Syndrome: How Is It Inherited? N.p., n.d. Web. 13 Mar. 2015.


"Learning About Marfan Syndrome." Learning About Marfan Syndrome. N.p., n.d. Web. 14 Mar. 2015.


"What Are the Signs?" What Are the Signs? N.p., n.d. Web. 14 Mar. 2015.


"Marfan Syndrome: How Is It Inherited?" Marfan Syndrome: How Is It Inherited? N.p., n.d. Web. 14 Mar. 2015.


"Is Marfan Syndrome a Sex-linked...disease? - Doctor Answers on HealthTap." HealthTap. N.p., n.d. Web. 14 Mar. 2015.


"How Is Marfan Syndrome Treated?" - NHLBI, NIH. N.p., n.d. Web. 14 Mar. 2015.


Sims, Judith; Frey Rebecca, Rebecca Frey, "Marfan Syndrome." Complete Human Diseases;Conditions. 2008, and "Marfan's Syndrome." A Dictionary of Nursing. 2008. "Marfan Syndrome." Encyclopedia.com. HighBeam Research, 01 Jan. 2006. Web. 14 Mar. 2015.