Marfan Syndrome

What are some Marfan syndrome symptoms?

Because Marfan syndrome affects nearly every type of tissue in the body, there are many signs. The most noticeable sign is abnormal body proportions. Children with Marfan syndrome have extremely long arms, legs, fingers and toes.

Other Marfan syndrome signs to look for are:

• Scoliosis, a curve of the spine to one side of the body
• Crowded teeth and a small, very high, arched roof of the mouth
• Flat feet without a normal arch
• A chest that sticks out or caves in at the center
• Joints that are too flexible
• Nearsightedness

A more serious Marfan syndrome symptom is a collapsed lung.

How do doctors diagnose Marfan syndrome?

If your child's doctor suspects Marfan syndrome might be causing some of your child's medical conditions, he or she will likely order more tests to be sure. Fibrillin-1 mutation testing may tell the doctor if your child has the gene mutation that causes Marfan syndrome.

Your child's cardiologist will perform an echocardiogram (ECHO) to examine the structure and function of the heart. This test will also give the doctor information about the size of your child's aorta.

Marfan syndrome treatment at Children's Hospital Colorado

While there is no cure for Marfan syndrome, it is possible to treat nearly all of its symptoms. With modern treatments, the life expectancy for people with Marfan syndrome is near normal and most children with the condition live healthy, normal lives.

Marfan syndrome treatments for all of your child's symptoms

At Children's Colorado, our specialty doctors will help your child manage his or her symptoms. Our ophthalmologists can treat any eye complications your child may develop as a result of Marfan syndrome. The Orthopedics Institute can help your child with skeletal complications, such as scoliosis, a curvature of the spine.

At our Heart Institute, we can monitor and treat any weakening of the aorta, the most significant issue that affects children with Marfan syndrome. Our cardiologists use medication to decrease the stress placed on the aorta, and in some cases, our cardiothoracic surgeons may recommend surgery to replace an aorta that has been significantly weakened by Marfan syndrome. Our surgical staff also repairs leaky heart valves associated with the condition.

Learn more about our Marfan Syndrome Clinic for the treatment of this condition. 

If you'd like to learn more about Marfan syndrome, visit:

• National Marfan Foundation
• The American Heart Association

Learn more about our Marfan Syndrome Clinic for the treatment of this condition.