Marfan Syndrome

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What is Marfan Syndrome?

Marfan Syndrome is a disorder that affects the bodies connective tissues. Causing long arms and legs,Curvature of the spine,Sudden lung collapse, And a multitude of other problems.

How is Marfan syndrome caused?

Marfan syndrome is caused by the protein fibrillin-1. The disorder is caused when there is a mutation in the gene that tells the body how to make fibrillin-1.This mutation results in an increase in a protein called transforming growth factor beta.

Symptoms

  • Tall and Slender body
  • A breast bone that protrudes outwards or dips inwards
  • Flat feet
  • A high, arched palate and crowded teeth
  • Heart murmurs
  • Extreme nearsightedness
  • An abnormally curved spine
  • Flexible joints
  • Dislocated lens of the eye
  • Early cataracts
  • Sudden lung collapse
  • Sleep apnea
  • Asthma
  • Emphysema
  • scoliosis or kyphosis
  • Long, thin fingers

How many people get Marfan Syndrome?

About 1 in 5,000 people have marfan syndrome.