Down syndrome

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Down syndrome
Classification and external resources

Boy with Down syndrome assembling a bookcase

ICD-10

Q90

ICD-9

758.0

OMIM

190685

DiseasesDB

3898

MedlinePlus

000997

eMedicine

ped/615

MeSH

D004314

Down syndrome (DS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.[1] Down syndrome is the most common chromosome abnormality in humans.[2] It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth, and a particular set of facial characteristics.[1] The average IQ of young adults with Down

syndrome is around 50, whereas young adults without the condition typically have an IQ of 100. [1][3] (MR has historically been defined as an IQ below 70.) A large proportion of individuals with Down syndrome have a severe degree of intellectual disability.[1] Down syndrome is named after John Langdon Down, the British physician who described the syndrome in 1866.[4] The condition was clinically described earlier by Jean Etienne Dominique Esquirol in 1838 and Edouard Seguin in 1844.[5] Down syndrome was identified as a chromosome 21 trisomy by Dr. Jrme Lejeune in 1959. Down syndrome can be identified in a baby at birth or before birth by prenatal screening.[1][6] Pregnancies with this diagnosis are often terminated.[7] The CDC estimates that about one of every 691 babies born in the United States each year is born with Down syndrome.[8] Many children with Down syndrome are educated in regular school classes while others require specialised educational facilities. Some children graduate from high school,[9] and, in the US, there are increasing opportunities for participating in post-secondary education.[10] Education and proper care has been shown to improve quality of lifesignificantly.[11] Many adults with Down Syndrome are able to work at paid employment in the community, while others require a more sheltered work environment.[9]

Contents
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1 Signs and symptoms

o o o o o o o o o

1.1 Mental characteristics and neurology 1.2 Congenital heart disease 1.3 Cancer 1.4 Thyroid disorders 1.5 Gastrointestinal 1.6 Infertility 1.7 Eye disorders 1.8 Hearing disorders 1.9 Other complications

2 Genetics
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2.1 Trisomy 21 2.2 Robertsonian translocation

3 Prenatal testing
o

3.1 Ultrasound

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3.2 Blood tests 3.3 Amniocentesis and CVS 3.4 Abortion rates

4 Postnatal diagnosis 5 Management

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5.1 Plastic surgery 5.2 Cognitive development

6 Epidemiology 7 Research history 8 Ethical issues 9 Society and culture

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9.1 World Down Syndrome Day 9.2 Notable individuals

10 Footnotes 11 References
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11.1 Research bibliography 11.2 General bibliography

12 External links