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
- Skeletal system
- Spinal cord
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.
Frequently Asked Questions
What is Marfan syndrome in children?
What causes Marfan syndrome in a child?
Which children are at risk for Marfan syndrome?
What are the symptoms of Marfan syndrome in a child?
How is Marfan syndrome diagnosed in a child?
How is Marfan syndrome treated in a child?
What are possible complications of Marfan syndrome in a child?
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When should I call my child's healthcare provider?
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Providers Who Treat Marfan Syndrome
Rare Disease Institute - Genetics and Metabolism
Children's National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.
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From sprains and strains to complex congenital conditions, Children's National Hospital offers one of the most experienced pediatric orthopaedic practices in the nation, with experience in treating all areas from head to toe.
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Our cancer genetics experts help answer important questions about your child's inherited risk for cancer.