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Down syndrome 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.[2] It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features.[1] The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.[8] The parents of the affected individual are usually genetically normal.[12] The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45.[3] The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability.[13] Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing.[5] Since the introduction of screening, pregnancies with the diagnosis are often terminated.[14][15] Regular screening for health problems common in Down syndrome is recommended throughout the person's life.
There is no cure for Down syndrome.[16] Education and proper care have been shown to improve quality of life.[6] Some children with Down syndrome are educated in typical school classes, while others require more specialized education.[7] Some individuals with Down syndrome graduate from high school, and a few attend post-secondary education.[17] In adulthood, about 20% in the United States do paid work in some capacity,[18] with many requiring a sheltered work environment.[7] Support in financial and legal matters is often needed.[9] Life expectancy is around 50 to 60 years in the developed world with proper health care.[8][9] Down syndrome is the most common chromosome abnormality in humans.[8] It occurs in about 1 in 1,000 babies born each year.[1] In 2015, Down syndrome was present in 5.4 million individuals globally and resulted in 27,000 deaths, down from 43,000 deaths in 1990.[10][11][19] It is named after British doctor John Langdon Down, who fully described the syndrome in 1866.[20] Some aspects of the condition were described earlier by French psychiatrist Jean-Étienne Dominique Esquirol in 1838 and French physician Édouard Séguin in 1844.[21] The genetic cause of Down syndrome was discovered in 1959.

Contents 1 Signs and symptoms 1.1 Physical 1.2 Neurological 1.3 Senses 1.4 Heart 1.5 Cancer 1.6 Endocrine 1.7 Gastrointestinal 1.8 Teeth 1.9 Fertility 2 Cause 2.1 Trisomy 21 2.2 Translocation 3 Mechanism 3.1 Epigenetics 4 Diagnosis 4.1 Before birth 4.2 Abortion rates 4.3 After birth 4.4 Screening 5 Management 5.1 Health screening 5.2 Cognitive development 5.3 Other 6 Prognosis 7 Epidemiology 8 History 9 Society and culture 9.1 Name 9.2 Ethics 9.3 Advocacy groups 10 Research 11 Other animals 12 References 13 External links Signs and symptoms A boy with Down syndrome using cordless drill to assemble a book case An eight-year-old boy An eight-year-old boy with Down syndrome Those with Down syndrome nearly always have physical and intellectual disabilities.[22] As adults, their mental abilities are typically similar to those of an 8- or 9-year-old.[8] They also typically have poor immune function[12] and generally reach developmental milestones at a later age.[9] They have an increased risk of a number of other health problems, including congenital heart defect, epilepsy, leukemia, thyroid diseases, and mental disorders.[20] Characteristics Percentage Characteristics Percentage Mental impairment 99%[23] Abnormal teeth 60%[24] Stunted growth 90%[25] Slanted eyes 60%[12] Umbilical hernia 90%[26] Shortened hands 60%[24] Increased skin on back of neck 80%[20] Short neck 60%[24] Low muscle tone 80%[27] Obstructive sleep apnea 60%[20] Narrow roof of mouth 76%[24] Bent fifth finger tip 57%[12] Flat head 75%[12] Brushfield spots in the iris 56%[12] Flexible ligaments 75%[12] Single transverse palmar crease 53%[12] Proportionally large tongue[28] 75%[27] Protruding tongue 47%[24] Abnormal outer ears 70%[20] Congenital heart disease 40%[24] Flattened nose 68%[12] Strabismus ~35%[1] Separation of first and second toes 68%[24] Undescended testicles 20%[29] Physical Feet of a boy with Down syndrome, showing the deviated first toes People with Down syndrome may have some or all of these physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, and a protruding tongue due to a small mouth and relatively large tongue.[27][28] These airway changes lead to obstructive sleep apnea in around half of those with Down syndrome.[20] Other common features include: a flat and wide face,[27] a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers.[24][27] Instability of the atlantoaxial joint occurs in about 20% and may lead to spinal cord injury in 1–2%.[8][9] Hip dislocations may occur without trauma in up to a third of people with Down syndrome.[20] Growth in height is slower, resulting in adults who tend to have short stature—the average height for men is 154 cm (5 ft 1 in) and for women is 142 cm (4 ft 8 in).[30] Individuals with Down syndrome are at increased risk for obesity as they age.[20] Growth charts have been developed specifically for children with Down syndrome.[20] Neurological This syndrome causes about a third of cases of intellectual disability.[12] Many developmental milestones are delayed with the ability to crawl typically occurring around 8 months rather than 5 months and the ability to walk independently typically occurring around 21 months rather than 14 months.[31] Most individuals with Down syndrome have mild (IQ: 50–69) or moderate (IQ: 35–50) intellectual disability with some cases having severe (IQ: 20–35) difficulties.[1][32] Those with mosaic Down syndrome typically have IQ scores 10–30 points higher.[33] As they age, people with Down syndrome typically perform worse than their same-age peers.[32][34] Commonly, individuals with Down syndrome have better language understanding than ability to speak.[20][32] Between 10 and 45% have either a stutter or rapid and irregular speech, making it difficult to understand them.[35] After reaching 30 years of age, some may lose their ability to speak.[8] They typically do fairly well with social skills.[20] Behavior problems are not generally as great an issue as in other syndromes associated with intellectual disability.[32] In children with Down syndrome, mental illness occurs

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