Down syndrome
A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual. Down syndrome causes mental retardation, a characteristic facial appearance, and multiple malformations. It is associated with a major risk for heart malformations, a lesser risk of duodenal atresia (part of the small intestines is not developed), and a minor but still significant risk of acute leukemia. The chromosome abnormality that causes Down syndrome is trisomy 21, a extra copy of chromosome number 21. This means that instead of having the normal 2 copies of chromosome number 21, the person with Down syndrome has 3 copies of chromosome number 21. Confirmation of such a condition requires a chromosome study (analysis under the microscope of the chromosomes). A chromosome study is also valuable to rule in or out a translocation (a type of rearrangement) of chromosome 21 that can be heritable in which case it can give rise to more cases of Down syndrome in the family. The evaluation of the Down syndrome baby and the family by a medical geneticist is often useful. In Down syndrome there are certain characteristic features in the appearance which may individually be quite subtle but together permit a clinical diagnosis of Down syndrome to be made at birth. These signs of Down syndrome include slight flattening of the face, minimal squaring off of the top of the ear, a low bridge of the nose (lower than the usually flat nasal bridge of the normal newborn), an epicanthal fold (a fold of skin over top of the inner corner of the eye, which can also be seen less frequently in normal babies), a ring of tiny harmless white spots around the iris, and a little narrowing of the palate. There are many, many more minor malformations in Down syndrome. Down syndrome is also associated with a number of major malformations. For example, approximately a half of Down syndrome children are born with a heart defect, most often a hole between the two sides of the heart. For another example, Hirschprung's disease (congenital aganglionic megacolon) which can cause intestinal obstruction occurs more frequently in children with Down syndrome than in other children. The intellectual handicaps in Down syndrome are often the most important problem. These handicaps may not be evident in early infancy. However, they tend to become increasingly noticeable later in infancy and during childhood as developmental delay. In adults with Down syndrome, the intellectual handicap is manifest as mental retardation. Very few adults with Down syndrome can lead independent lives because of their mental retardation. It was once thought that nearly all adults with Down syndrome developed Alzheimer's disease (dementia) so that on top of their mental handicap most people with Down syndrome were slated for premature senility. However, it now appears that a much lower proportion, perhaps 20 to 25%, of Down's adults develop dementia. The majority of adults with Down syndrome may thus be spared this fate.

* * *

Down syndrome or Down's syndrome n a congenital condition characterized by moderate to severe mental retardation, slanting eyes, a broad short skull, broad hands with short fingers, and by trisomy of the human chromosome numbered 21 called also trisomy 21
Down 'dau̇n 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. Although his classification is invalid, one kind of moderate to severe mental retardation was known until recently as mongolism and is now called Down syndrome or Down's syndrome.

* * *

a chromosome disorder characterized by a small, anteroposteriorly flattened skull, short, flat-bridge nose, epicanthal fold, short phalanges, widened spaces between the first and second digits of hands and feet, and moderate to severe mental retardation, with Alzheimer disease developing in the fourth or fifth decade. The chromosomal aberration is trisomy of chromosome 21 associated with late maternal age. Called also trisomy 21 and nondisjunction; formerly called mongolism.

Boy with typical facial features and small hands of Down syndrome.


Medical dictionary. 2011.

Look at other dictionaries:

  • Down syndrome — Down syn drome, Down s syndrome Down s syn drome, n. (Med.) A congenital disorder caused by an extra chromosome 21 in some or all cells. It causes a variable number and degree of abnormalities, including retarded growth, mental retardation, a… …   The Collaborative International Dictionary of English

  • Down syndrome — [doun] n. [after J. L. H. Down (1828 96), Brit physician] a congenital condition characterized by abnormal chromosomes, mental deficiency, a broad face, slanting eyes, a short fifth finger, etc.; Mongolism: also called Down s syndrome …   English World dictionary

  • Down syndrome — Down syndrome. См. болезнь Дауна. (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.

  • Down syndrome — Down ,syndrome noun uncount a medical condition that someone is born with, that makes them develop mentally and physically in a different way from most people …   Usage of the words and phrases in modern English

  • Down syndrome — Classification and external resources Boy with Down syndrome assembling a …   Wikipedia

  • Down syndrome — Pathol. a genetic disorder, associated with the presence of an extra chromosome 21, characterized by mild to severe mental retardation, weak muscle tone, a low nasal bridge, and epicanthic folds at the eyelids. Also, Down s syndrome. Formerly,… …   Universalium

  • Down syndrome — noun a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation • Syn: ↑mongolism, ↑mongolianism, ↑Down s syndrome, ↑trisomy 21 • Hypernyms: ↑trisomy, ↑birth defect, ↑ …   Useful english dictionary

  • Down syndrome — Down′ or Down s syndrome n. pat a genetic disorder associated with the presence of an extra chromosome 21, characterized by mental retardation, weak muscle tone, and epicanthic folds at the eyelids Formerly, mongolism Also called trisomy 21… …   From formal English to slang

  • Down syndrome — Down s syndrome …   The new mediacal dictionary

  • Down syndrome — /ˈdaʊn sɪndroʊm / (say down sindrohm) noun a genetic condition resulting from a third chromosome on the 21st chromosomal pairing, characterised by varying degrees of intellectual and physical impairment. Also, Down s syndrome. {from John Langdon… …   Australian English dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”