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From Genetics Home Reference. Learn more
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.
People with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.
Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).
Delayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.
People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.
Down syndrome occurs in about 1 in 700 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and approximately 200,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older.
Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.
Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) in a parent or very early in fetal development. Affected people have two normal copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. Affected individuals with this genetic change are said to have translocation Down syndrome.
A very small percentage of people with Down syndrome have an extra copy of chromosome 21 in only some of the body's cells. In these people, the condition is called mosaic Down syndrome.
Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition.
Learn more about the chromosome associated with Down syndrome
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
People with translocation Down syndrome can inherit the condition from an unaffected parent. The parent carries a rearrangement of genetic material between chromosome 21 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, as this translocation is passed to the next generation, it can become unbalanced. People who inherit an unbalanced translocation involving chromosome 21 may have extra genetic material from chromosome 21, which causes Down syndrome.
Like trisomy 21, mosaic Down syndrome is not inherited. It occurs as a random event during cell division early in fetal development. As a result, some of the body's cells have the usual two copies of chromosome 21, and other cells have three copies of this chromosome.
47,XX,+21
47,XY,+21
Down's syndrome
trisomy 21
trisomy G
Genetic and Rare Diseases Information Center
Down syndrome
Research Studies from ClinicalTrials.gov
ClinicalTrials.gov
Catalog of Genes and Diseases from OMIM
DOWN SYNDROME
Scientific Articles on PubMed
PubMed
Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004 Oct;5(10):725-38. Review. Citation on PubMed
Capone G, Goyal P, Ares W, Lannigan E. Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am J Med Genet C Semin Med Genet. 2006 Aug 15;142C(3):158-72. Review. Citation on PubMed
Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):87-94. Citation on PubMed
Chapman RS, Hesketh LJ. Behavioral phenotype of individuals with Down syndrome. Ment Retard Dev Disabil Res Rev. 2000;6(2):84-95. Review. Citation on PubMed
Cohen WI. Current dilemmas in Down syndrome clinical care: celiac disease, thyroid disorders, and atlanto-axial instability. Am J Med Genet C Semin Med Genet. 2006 Aug 15;142C(3):141-8. Review. Citation on PubMed
de Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. 2015 Apr;167A(4):756-67. doi: 10.1002/ajmg.a.37001. Citation on PubMed
de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med. 2017 Apr;19(4):439-447. doi: 10.1038/gim.2016.127. Epub 2016 Sep 8. Citation on PubMed
Kumin L. Speech intelligibility and childhood verbal apraxia in children with Down syndrome. Downs Syndr Res Pract. 2006 Jul;10(1):10-22. Citation on PubMed
Lott IT, Head E. Alzheimer disease and Down syndrome: factors in pathogenesis. Neurobiol Aging. 2005 Mar;26(3):383-9. Review. Citation on PubMed
Lubec G, Engidawork E. The brain in Down syndrome (TRISOMY 21). J Neurol. 2002 Oct;249(10):1347-56. Review. Citation on PubMed
Roizen NJ, Patterson D. Down's syndrome. Lancet. 2003 Apr 12;361(9365):1281-9. Review. Citation on PubMed
Shapiro BL. Down syndrome and associated congenital malformations. J Neural Transm Suppl. 2003;(67):207-14. Review. Citation on PubMed
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7. Review. Citation on PubMed
Steingass KJ, Chicoine B, McGuire D, Roizen NJ. Developmental disabilities grown up: Down syndrome. J Dev Behav Pediatr. 2011 Sep;32(7):548-58. doi: 10.1097/DBP.0b013e31822182e0. Review. Citation on PubMed
Zigman WB, Lott IT. Alzheimer's disease in Down syndrome: neurobiology and risk. Ment Retard Dev Disabil Res Rev. 2007;13(3):237-46. Review. Citation on PubMed
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Note the decreased distance from the point where neck and shoulders meet to the inferior margin of the occipital bone.
Credit: Stacey Lynn Payne/Shutterstock.com
Thyroid gland and parathyroid glands
The thyroid gland lies at the base of the throat near the trachea. It is shaped like a butterfly, with the right lobe and left lobe connected by a thin piece of tissue called the isthmus. The parathyroid glands are four pea-sized organs found in the neck near the thyroid. The thyroid and parathyroid glands make hormones.
Abnormal blood cell development in leukemia
Credit: U.S. National Library of Medicine
Credit: U.S. National Library of Medicine
Down syndrome is a genetic disease resulting from a chromosomal abnormality. An individual with Down syndrome inherits all or part of an extra copy of Chromosome 21. Symptoms associated with the syndrome include mental retardation, distinctive facial characteristics, and increased risk for heart defects and digestive problems, which can range from mild to severe. The risk of having a child with Down syndrome rises with the mother's age at the time of conception.
Credit: U.S. National Library of Medicine
Credit: U.S. National Library of Medicine
Credit: Denis Kuvaev/Shutterstock.com
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There are 23 pairs of chromosomes, for a total of 46. Half the chromosomes come from the egg (the mother) and half come from the sperm (the father). This XY chromosome pair includes the X chromosome from the egg and the Y chromosome from the sperm. In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the normal two copies.
Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.
Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.
Better understanding of Down syndrome and early interventions can greatly increase the quality of life for children and adults with this disorder and help them live fulfilling lives.
Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.
Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:
Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.
Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and long-term memory is affected.
Children with Down syndrome usually are diagnosed before or at birth. However, if you have any questions regarding your pregnancy or your child's growth and development, talk with your doctor.
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.
Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:
There are no known behavioral or environmental factors that cause Down syndrome.
Most of the time, Down syndrome isn't inherited. It's caused by a mistake in cell division during early development of the fetus.
Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.
When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.
Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:
People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:
For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.
Life spans have increased dramatically for people with Down syndrome. Today, someone with Down syndrome can expect to live more than 60 years, depending on the severity of health problems.
There's no way to prevent Down syndrome. If you're at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant.
A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing.
Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care like they've never experienced. See the stories of satisfied Mayo Clinic patients.
Randi, Simon and Brian Beyerl For new parents of babies born with Down syndrome, the educational brochures that were at their disposal made them feel less than hopeful. Mayo Clinic's Office of Patient Education knew they could do better, so a team set about creating new materials to provide families with a more optimistic outlook. [...]
What is Down syndrome? National Down Syndrome Society. http://www.ndss.org/down-syndrome/what-is-down-syndrome/. Accessed Dec. 16, 2016.
Down syndrome fact sheet. National Down Syndrome Society. http://www.ndss.org/Down-Syndrome/Down-Syndrome-Facts/. Accessed Dec. 16, 2016.
Messerlian GM, et al. Down syndrome: Overview of prenatal screening. http://www.uptodate.com/home. Accessed Dec. 16, 2016.
National Library of Medicine. Down syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/down-syndrome. Accessed Dec. 16, 2016.
Facts about Down syndrome. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Accessed Dec. 16, 2016.
Down syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/default.aspx. Accessed Dec. 16, 2016.
Frequently asked questions. Prenatal genetic diagnostic tests. FAQ164. Pregnancy. American College of Obstetricians and Gynecologists. https://www.acog.org/-/media/For-Patients/faq164.pdf?dmc=1&ts=20161216T1208042192. Accessed Dec. 16, 2016.
Ostermaier KK. Down syndrome: Management. http://www.uptodate.com/home. Accessed Dec. 22, 2016.
Ostermaier KK. Down syndrome: Clinical features and diagnosis. http://www.uptodate.com/home. Accessed Jan. 10, 2017.
Gabbe SG, et al., eds. Genetic screening and prenatal genetic diagnosis. In: Obstetrics: Normal and Problem Pregnancies. 7th ed. Philadelphia, Pa.: Saunders Elsevier; 2017.
Rink BD, et al. Screening for fetal aneuploidy. Seminars in Perinatology. 2016;40:35.
Bunt CW, et al. The role of the family physician in the care of children with Down syndrome. American Family Physician. 2014;90:851.
Butler Tobah YS (expert opinion). Mayo Clinic, Rochester, Minn. Jan. 26, 2017.
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