Marfan Syndrome: Symptoms & Signs

Medically Reviewed on 8/28/2020

Marfan syndrome is an inherited, genetic disease of connective tissue. It affects many parts of the body, including the skeleton, eyes, heart, blood vessels, nervous system, skin, and respiratory system.

The severity of Marfan syndrome varies among affected people, and it typically worsens over time. Signs and symptoms are variable but can include

Other associated signs and symptoms can include

  • abnormally long fingers,
  • disproportionately long arms and legs,
  • fatigue,
  • flat feet,
  • scoliosis, and a
  • tall and slender build.

Cause of Marfan syndrome

A genetic defect, or mutation, in the gene codes for fibrillin-1 (a protein that is an important part of connective tissue) causes Marfan syndrome.

Other marfan syndrome symptoms and signs

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Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.