Marfan's syndrome

Mar·fan's syndrome (märfnz)

n.

A hereditary disorder principally affecting the connective tissues of the body, manifested in varying degrees by excessive bone elongation and joint flexibility and by abnormalities of the eye and cardiovascular system.

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Marfan's syndrome

[märfäNz′]

Etymology: Bernard-Jean A. Marfan, French pediatrician, 1858-1942

a hereditary condition that affects the musculoskeletal system and is often associated with abnormalities of the cardiovascular system and the eyes. Inherited as an autosomal-dominant trait, Marfan's syndrome affects men and women equally. Its major musculoskeletal effects include muscular underdevelopment, ligamentous laxity, joint hypermobility, and bone elongation. The extremities of individuals with Marfan's syndrome are very long and spiderlike, with arachnodactyly. Most adult patients are over 6 feet (1.8 meters) tall and have asymmetric skulls. Funnel chest is common, and a lateral curvature of the spine may develop and increase during years of rapid vertebral growth, with kyphoscoliosis developing to varying degrees. The severe ligamental laxity and joint hypermobility associated with Marfan's syndrome may be seen by radiographic examination and often result in pes valgus and back knee. Pathologic alterations of the cardiovascular system appear to produce fragmentation of the elastic fibers in the media of the aorta, which may lead to aneurysm. Ocular changes include a variety of disorders, including dislocation of the lens. No specific treatment is available, and symptomatic management of the associated problems is the usual alternative. Resulting deformities, such as kyphoscoliosis, may be treated with orthoses or surgery, as indicated.

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Marfan's syndrome

congenital defect in calves comparable to an inherited human defect; enlargement of the aortic root associated with a loud systolic murmur on the left side, long, thin limbs, joint laxity, lenticular displacement and opacity.

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Patient discussion about Marfan's syndrome.

Q. My neighbor's kid had a lens dislocation due to Marfan's disease. Is this a contagious thing? My neighbor's have a sweet 8 year old boy. he had a lens dislocation due to a connective tissue disease named Marfan (I think that the name). It sounds like a very serious condition. My boy is playing with this kid several hour a week. should I take him to the GP to see that his is not infected with this marfan thing?

A. Don't worry. Marfan's syndrome is a connective tissue disease that is genetic. This means that You can't "get" this disease. Either you are borne with it or you will never suffer from it.
lens dislocation is a known symptom of marfan's syndrome, and is not connected to infectious diseases.

Q. A friend of mine is suffering from Marfan's syndrome. Should she do any test to check for an aneurysm? My friend is 26 years old and suffers from Marfan's syndrome for all her life. She was told she has a greater risk factor for having an aneurysm. Does she needs any screening for this condition?

A. Screening for aneurysms should be done if someone has a greater risk for it. In this case your friend should go to her GP and he will advise her about the frequency of the screening test.