Marfan syndrome

Marfan syndrome
Inherited disorder characterized by long fingers and toes, dislocation of the lens, and aortic wall weakness and aneurysm. Parents with Marfan syndrome have a 50 percent chance of passing it on to each child. There is not yet a genetic test for Marfan syndrome, so diagnosis is complex. It usually includes several steps: generally a detailed medical and family history, visual examination, measurement and comparison of height to limb length, eye examination, X-rays of the spine and sometimes other areas, and electrocardiogram and echocardiogram of the heart. There is no treatment specifically for Marfan syndrome, but specific problems associated with it (such as scoliosis and eye problems) may be treated individually. (It has been suggested

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Mar·fan syndrome 'mär-.fan- or Mar·fan's syndrome -.fanz- n a disorder of connective tissue that is inherited as a simple dominant trait, is caused by a defect in the gene controlling the production of fibrillin, and is characterized by abnormal elongation of the long bones and often by ocular and circulatory defects
Mar·fan mȧr-fän Antonin Bernard Jean (1858-1942)
French pediatrician. Marfan concerned himself with the prevention, diagnosis, and treatment of children's diseases. In 1892 he described spastic paralysis in children with hereditary syphilis. In 1896 he described a syndrome marked by arachnodactyly, ectopia of the crystalline lens, and abnormal flexibility of the joints. The syndrome now bears his name.

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Mar·fan syndrome (mahrґfan) [Antonin Bernard Jean Marfan, French pediatrician, 1858–1942] see under syndrome.

Medical dictionary. 2011.

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