Marfan Syndrome

Summary

Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.

Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.

There is no specific test for Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Encyclopedia

• Arachnodactyly Medical Encyclopedia

Related Issues

• Beals Syndrome Marfan Foundation
• Emergencies Marfan Foundation
• Loeys-Dietz Syndrome Marfan Foundation
• What Are Related Conditions? Marfan Foundation

Clinical Trials

• ClinicalTrials.gov: Marfan Syndrome National Institutes of Health

Find an Expert

• Find a Genetic Counselor National Society of Genetic Counselors
• National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institute of Arthritis and Musculoskeletal and Skin Diseases

Diagnosis and Tests

• Getting Diagnosed Marfan Foundation

Specifics

• Heart and Blood Vessels in Marfan Syndrome Marfan Foundation

Start Here

• Learning about Marfan Syndrome National Human Genome Research Institute
• Marfan Syndrome National Heart, Lung, and Blood Institute
• What Is Marfan Syndrome? National Institute of Arthritis and Musculoskeletal and Skin Diseases

Patient Handouts

• Marfan syndrome Medical Encyclopedia

Children

• Marfan Syndrome (For Parents) Nemours Foundation

Genetics

• Marfan syndrome: MedlinePlus Genetics National Library of Medicine

Journal Articles

• Marfan Syndrome