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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  • Marfan syndrome — Marfan syndrome. См. синдром Марфана. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Marfan syndrome — /mahr fan, mahr fan /, Pathol. a hereditary disorder characterized by abnormally elongated bones, esp. in the extremities, hypermotility of the joints, and circulatory and eye abnormalities. [named after Antonin Bernard Marfan (1858 1942), French …   Universalium

  • Marfan syndrome — noun Etymology: Antonin Bernard Jean Marfan died 1942 French pediatrician Date: circa 1923 a disorder of connective tissue that is inherited as a dominant trait and is characterized by abnormal elongation of the long bones and often by ocular and …   New Collegiate Dictionary

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  • Marfan syndrome — Dominant disorder of connective tissue in which limbs are excessively long and loose jointed. Probably a collagen fibril assembly disorder since it can be mimicked in mice by aminonitriles that interfere with crosslinking …   Dictionary of molecular biology

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  • Dennie–Marfan syndrome — is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental retardation in children with congenital syphilis. Both sexes are affected, and the onset of the disease can be acute or insidious, with slow… …   Wikipedia

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