Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs.

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... Marfan syndrome is an inherited disorder of connective tissue, the tissue that provides support to structures of the body such as blood vessel walls, heart valves, and cartilage.

The symptoms and characteristics of Marfan syndrome vary widely in severity and timing of onset. Some people have only mild symptoms, while others experience serious medical problems.

Marfan syndrome mainly affects the heart, blood vessels, skeleton, and eyes. Affected individuals often are tall and thin, and may have long and slender fingers, an arm span that exceeds body height, unusually flexible joints, and a long, narrow face, with a high roof of the mouth and crowded teeth. Nearly two-thirds of people with Marfan syndrome experience curvature of the spine (scoliosis) and have either a sunken or barrel chest. In approximately half of Marfan patients, the lens of one or both eyes is dislocated or off center. Nearsightedness and cataracts (clouding of the lens) are other common problems.

Most people with Marfan syndrome have abnormalities associated with the heart and blood vessels. Leaks in heart valves can cause shortness of breath, fatigue, and a fast, irregular heartbeat. The aorta, the large blood vessel that carries blood from the heart to the rest of the body, can weaken and stretch. An abnormal bulging (called an aneurysm) may develop in the weakened aorta. If the aorta tears or ruptures, it causes serious heart problems or sometimes sudden death. ...

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Marfan syndrome is a connective tissue disorder characterized by unusually l ...
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Marfan Syndrome Symptoms

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Signs and symptoms
... Because Marfan syndrome can affect so many body systems, the signs and symptoms of the disease vary greatly, even among members of the same family. Some people experience only mild effects, whereas ot...
Source: MayoClinic

Causes
... The elastic tissues in your body — including your skin, lungs and blood vessels — are supported and nourished by a strong, resilient framework of connective tissue. Although it varies from...
Source: MayoClinic

Marfan Syndrome Prevention

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Prevention
... There''s no known way to prevent Marfan syndrome. Even if people with the genetic defect that causes the disease choose not to have children, new mutations can occur. Still, if you have Marfan syndrom...
Source: MayoClinic

Marfan Syndrome Treatment

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Complications
... Because Marfan syndrome can affect almost any part of your body, it may cause a wide range of complications, especially those that involve your heart, eyes and lungs. Cardiovascular complications The ...
Source: MayoClinic

Treatment
... No treatment exists for Marfan syndrome itself. Instead, therapy often focuses on preventing the various complications of the disease. For that reason, the treatment you receive will depend on the nat...
Source: MayoClinic

Marfan Syndrome Support

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Coping skills
... Living with a genetic disorder can be extremely difficult for both adults and children. Adults who receive a diagnosis later in life may wonder how the disease will affect their careers, their relatio...
Source: MayoClinic

Marfan Syndrome Other

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Marfan Syndrome
... Marfan syndrome is an inherited disease that affects the connective tissue. Connective tissue is the most abundant tissue in the body and is a vital component to the body''s organs. Its primary purpos...
Source: Cleveland Clinic

Questions and Answers about Heritable Disorders of Connective Tissue
... This fact sheet describes a family of more than 200 disorders that affect connective tissues. These disorders result from alterations (mutations) in genes responsible for building tissues. Alterations...
Source: National Institute of Arthritis and Musculoskeletal and Skin Diseases

   

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