Difference between revisions of "Down syndrome"
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| − | '''Down syndrome''' (also written as '''Down's syndrome''') is a genetic disorder caused by an extra [[chromosome]] | + | '''Down syndrome''' (also written as '''Down's syndrome''') is a genetic disorder caused by an extra copy of [[chromosome]] 21. The greatest risk factor for having a child with Down syndrome is increased maternal (and, to a lesser extent, paternal) age. |
| − | The name comes from [[British]] [[physician]] [[John Langdom Down]], who described the syndrome in [[1862]]. Down named the condition '''mongolism''' because the external appearance of its sufferers resembled the [[Mongolian]] race (one of the five racial classifications commonly used at the time). Currently, the terms "mongolism" and "mongoloid" are considered offensive. | + | The name comes from [[British]] [[physician]] [[John Langdom Down]], who described the syndrome in [[1862]]. Down named the condition '''mongolism''' because the external appearance of its sufferers resembled that of the [[Mongolian]] race (one of the five racial classifications commonly used at the time). Currently, the terms "mongolism" and "mongoloid" are considered offensive. |
| − | The most important medical aspect of Down syndrome is [[mental retardation]]. Individuals with Down syndrome have mild to severe mental retardation | + | The most important medical aspect of Down syndrome is [[mental retardation]]. Individuals with Down syndrome have mild to severe mental retardation. It is impossible to reliably predict what the eventual level of function of a child with Down syndrome will be. |
| − | Other characteristics of Down syndrome are (not all of them affect | + | Other characteristics of Down syndrome are (not all of them affect every individual): |
* Single [[transverse palmar crease]] | * Single [[transverse palmar crease]] | ||
| − | * | + | * Epicanthic folds and oblique eye opening |
* Smaller limbs | * Smaller limbs | ||
* Weak muscle tone | * Weak muscle tone | ||
| − | * | + | * Enlarged, protruding [[tongue]] |
* [[Congenital heart defect]] | * [[Congenital heart defect]] | ||
* [[Gastroesophageal reflux disease]] | * [[Gastroesophageal reflux disease]] | ||
| − | * [[Otitis]] | + | * [[Otitis]] and hearing deficits |
* [[Sleep apnea]] | * [[Sleep apnea]] | ||
* [[Thyroid]] hormone problems | * [[Thyroid]] hormone problems | ||
* [[Leukemia]] | * [[Leukemia]] | ||
| + | * Early onset [[Alzheimer's disease]] | ||
| − | There are evidences that people with Down syndrome have higher | + | There are evidences that people with Down syndrome have higher resistance to [[cancer]]. |
| − | Down syndrome is an universal phenomemon, affecting all nationalities. | + | Down syndrome is an universal phenomemon, affecting all nationalities. Although the greatest risk factor is increased maternal age, the majority of children with Down syndrome are born to mothers under the age of 35, because the vast majority of children as a whole are born to younger mothers. |
[[Category:Genetics]] | [[Category:Genetics]] | ||
[[Category:Diseases]] | [[Category:Diseases]] | ||
Revision as of 16:37, October 6, 2008
Down syndrome (also written as Down's syndrome) is a genetic disorder caused by an extra copy of chromosome 21. The greatest risk factor for having a child with Down syndrome is increased maternal (and, to a lesser extent, paternal) age.
The name comes from British physician John Langdom Down, who described the syndrome in 1862. Down named the condition mongolism because the external appearance of its sufferers resembled that of the Mongolian race (one of the five racial classifications commonly used at the time). Currently, the terms "mongolism" and "mongoloid" are considered offensive.
The most important medical aspect of Down syndrome is mental retardation. Individuals with Down syndrome have mild to severe mental retardation. It is impossible to reliably predict what the eventual level of function of a child with Down syndrome will be.
Other characteristics of Down syndrome are (not all of them affect every individual):
- Single transverse palmar crease
- Epicanthic folds and oblique eye opening
- Smaller limbs
- Weak muscle tone
- Enlarged, protruding tongue
- Congenital heart defect
- Gastroesophageal reflux disease
- Otitis and hearing deficits
- Sleep apnea
- Thyroid hormone problems
- Leukemia
- Early onset Alzheimer's disease
There are evidences that people with Down syndrome have higher resistance to cancer.
Down syndrome is an universal phenomemon, affecting all nationalities. Although the greatest risk factor is increased maternal age, the majority of children with Down syndrome are born to mothers under the age of 35, because the vast majority of children as a whole are born to younger mothers.
