What is Marfan syndrome?

Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including the following:

  • Assisting with growth and development of the body's cells, both before and after birth
  • Supporting tissues in the body
  • Acting as an adhesive to hold certain tissues together
  • Protecting joints
  • Facilitating the passage of light through the eye

A defective (FBN1) gene associated with Marfan syndrome affects the formation of a protein in connective tissue called fibrillin, which impacts the integrity of many organs and structures in the body. Organs and body systems that can be impacted include, but are not limited to, the following:

  • Heart and major blood vessels
  • Lungs
  • Skeletal system
  • Spinal cord
  • Eyes
  • Skin

According to the March of Dimes, more than 200,000 people in the U.S. are affected by Marfan syndrome. Marfan syndrome occurs in equal numbers in males and females, and also appears equally in all races and ethnic groups.