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Definition of DOWN SYNDROME
: a congenital condition characterized by moderate to severe mental retardation, slanting eyes, a broad short skull, broad hands with short fingers, and trisomy of the human chromosome numbered 21 —called also Down's syndrome
: a congenital condition characterized by moderate to severe mental retardation, upward slanting eyes usually with epicanthic folds, a broad short skull, broad hands with short fingers, decreased muscle tone, and by trisomy of the human chromosome numbered 21—called also trisomy 21
Biographical Note for DOWN SYNDROME
Down\ˈdau̇n\ , John Langdon Haydon(1828–1896), British physician. Down published in 1866 a treatise on the degeneration of race as a result of marriages of consanguinity. He classified individuals exhibiting mental retardation according to the supposed physiognomic features of various races including the American Indian, Caucasian, Ethiopian, and Mongolian. His classification was invalid, but one kind of moderate to severe mental retardation came to be known as mongolism, although it is now called Down syndrome or Down's syndrome.
Variants of DOWN SYNDROME
Down syndromeorDown's syndrome
Congenital disorder caused by an extra chromosome (trisomy) on the chromosome 21 pair. Those with the syndrome may have broad, flat faces; up-slanted eyes, sometimes with epicanthal folds (whence its former name, mongolism); intellectual disability (usually moderate); heart or kidney malformations; and abnormal fingerprint patterns. Many persons with Down syndrome can live and work independently or in a sheltered environment, but they age prematurely and have a short (55-year) life expectancy. The risk of bearing a child with the disorder increases with the mother's age; it can be detected in the fetus by amniocentesis.