Marfan Syndrome

Epidemiology


Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:

  • A tall, thin build.
  • Long arms, legs, fingers, and toes and flexible joints.
  • A spine that curves to one side. This condition is called scoliosis.
  • A chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively.
  • Teeth that are too crowded.
  • Flat feet.

How Is Marfan Syndrome Diagnosed?


There is no single test to diagnose Marfan syndrome. Your doctor may use many tools to make a diagnosis:

  • Medical history
  • Family history (any family members who have Marfan syndrome or who died at a young age from heart problems)
  • A physical exam, including the length of the bones in the arms and legs
  • An eye exam, including a “slit lamp” test

How Is Marfan Syndrome Treated?

There is no cure for Marfan syndrome, but certain activities can help treat and sometimes prevent related problems.

Prognosis

If unrecognized or left untreated, the average life expectancy for a patient with Marfan syndrome is 45 years. However, if properly managed, patients with Marfan syndrome can have a normal life expectancy.