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Pediatric Marfan Syndrome

Marfan syndrome affects the body’s connective tissues and is passed down in families (hereditary).

What is Pediatric Marfan Syndrome?

Marfan syndrome is an inherited condition that causes problems with the body’s connective tissues. These are the fibers that support the organs and various structures throughout the body. This condition typically affects the heart, eyes, blood vessels and skeleton.

The effects of Marfan syndrome range from mild to severe. When the aorta (major blood vessel and main artery of the body) is impacted, the condition can be life-threatening.

What are the signs and symptoms of Pediatric Marfan Syndrome?

Signs and symptoms of Marfan syndrome can include:

  • Breastbone that sticks out or dips in
  • Curved spine
  • Flat feet
  • Severe nearsightedness
  • Slender body
  • Tall stature
  • Teeth that appear crowded in the mouth
  • Unusually long arms, legs and fingers
  • Heart murmurs (whooshing or swishing heartbeat)

What are the causes of Pediatric Marfan Syndrome?

This condition is caused by a genetic (passed down in families) defect that prevents the body from producing the protein that helps give connective tissue its usual elasticity and strength. In some cases, there is no family history of the condition and the gene mutation occurs spontaneously and randomly.

How is Pediatric Marfan Syndrome treated?

Since Marfan syndrome involves several systems in the body, it is important that patients be seen by several groups of doctors, most commonly heart (cardiology), eye (ophthalmology) and bone (orthopedics) doctors. These doctors treat the patient with medicines, appliances (glasses, back braces, etc) and surgery as needed.

Pediatric Marfan Syndrome Doctors and Providers