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Chromosomal and Genetic Conditions

Marfan Syndrome

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Symptoms of Marfan Syndrome

The symptoms of Marfan syndrome may vary greatly from child to child, even among children in the same family. Symptoms can range from mild to severe.

Some children have no signs or symptoms early in life. But as they grow, they develop common Marfan traits.

Babies

If you have a family history of Marfan syndrome, tell your doctors this when you are pregnant, so they can check your newborn closely for signs of the condition.

Newborns who do have signs of Marfan may have more serious heart problems than children diagnosed at an older age.

They may also have any of these problems:

  • Mitral valve prolapse 
  • Regurgitation (blood that leaks backward through a heart valve)
  • Breathing problems

Children

In children up to age 12, the most common signs of the condition are problems in the skeletal system. Your child may have these traits:

  • Tall and thin frame
  • Long, slender fingers, thumb and toes
  • Breastbone that caves inward or protrudes forward
  • Loose joints
  • Scoliosis (spine that curves to the side)
  • Flat feet
  • Vision problems

Teenagers

Many of the traits of Marfan syndrome may be quite mild early in life and become more noticeable as your child grows. So your child may not be diagnosed with Marfan syndrome until their teenage years.

Along with the common traits listed above, your doctor will be looking for these signs and symptoms in your teen:

Marfan Syndrome Diagnosis

To diagnose this condition, your doctor will ask about your child’s health history and your family’s health history. The doctor will also do a complete exam, checking your child for the physical traits of Marfan syndrome.

Your child will need an echocardiogram test so the doctor can see how their heart works.

An ophthalmologist will check your child for any vision problems.

Early diagnosis is important to your child’s future health. When Marfan is diagnosed early, your doctor can watch your child for problems that may require treatment. This may help prevent complications.

If one of your children has Marfan syndrome, your doctor may suggest doing genetic tests to help tell whether other children or one of the parents has the condition.

Who Treats This at Seattle Children's?

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