- 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 pediatrician, who described it in 1892]
* * *Rare hereditary disorder of connective tissue.Affected persons are tall, with long, thin limbs and spiderlike fingers (arachnodactyly). The lens of the eye is dislocated, and many have glaucoma or detached retina. Heart muscle abnormalities and various malfunctions and malformations occur; rupture of the aorta is the most common cause of death. Severity varies; affected individuals may die young or live essentially normal lives. The underlying abnormality cannot be cured, but some of the defects can be surgically corrected.
* * *also called arachnodactylyrare hereditary connective tissue disorder (connective tissue disease) that affects most notably the skeleton, heart, and eyes. In Marfan syndrome a genetic mutation causes a defect in the production of fibrillin, a protein found in connective tissue. Affected individuals have a tall, lanky frame and fingers that are long and may be described as spiderlike. There is a tendency to double-jointedness. The lens of the eye is commonly dislocated, and there is a high frequency of glaucoma or retinal detachment. The heart muscles have an abnormal composition, and a variety of cardiovascular malfunctions and malformations may occur; rupture of the aorta is the most common cause of death. Marfan syndrome is inherited as an autosomal dominant trait. Depending on the degree of expression of the trait, affected individuals may die at an early age or may live essentially normal lives. Although the basic abnormality of connective tissue cannot be treated, wound healing occurs normally, and surgical correction of some defects is possible. Marfan syndrome is named for French physician Antonin Marfan, who first described the disorder in 1896.
* * *
См. также в других словарях:
Marfan syndrome — Marfan redirects here. For the person after whom the syndrome is named, see Antoine Marfan. Marfan syndrome Classification and external resources Micrograph demonstrating myxomatous degeneration of the aorti … Wikipedia
Marfan syndrome — [mär′fan] n. [after Antonin Marfan (1858 1942), Fr physician, who first described it (1892)] a hereditary disorder characterized by abnormalities of the blood circulation and the eyes, abnormally long bones in the limbs, and very mobile joints:… … English World dictionary
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 — 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… … Medical dictionary
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
Marfan syndrome — Mar′fan syn drome [[t]ˈmɑr fæn, mɑrˈfæn[/t]] n. pat a hereditary disorder characterized by abnormally elongated bones, hypermotility of the joints, and circulatory and eye abnormalities • Etymology: after Antonin Bernard Marfan (1858–1942),… … From formal English to slang
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
Marfan syndrome — noun A genetic disorder of the connective tissue that causes defects in the heart valves and aorta. See Also: marfanoid … Wiktionary
marfan syndrome — … Useful english dictionary
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