Health Topic

Marfan Syndrome

Marfan syndrome is a disorder that affects connective tissue. Marfan syndrome can be mild to severe. Read about symptoms and outlook.

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Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.

About Marfan Syndrome

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.

It sits within Genetics/Birth Defects.

The lead U.S. institute for this subject is the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.

Research on Marfan Syndrome

95 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.

What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.

Research currently under way

Research already completed

Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.

Where to read more

Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.

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Diagnosis and Tests

Related Issues

Genetics

Clinical Trials

Medical subject headings

Clinicians and researchers index this subject under Marfan Syndrome. These are the terms to use when searching medical literature.

This page is built from the MedlinePlus health topic record for Marfan Syndrome, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.