 Down Syndrome
"Down Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
| Descriptor ID |
D004314
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| MeSH Number(s) |
C10.597.606.643.220 C16.131.077.327 C16.131.260.260 C16.320.180.260
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| Concept/Terms |
Down Syndrome- Down Syndrome
- Syndrome, Down
- Mongolism
- Trisomy 21
- 47,XX,+21
- 47,XY,+21
- Down's Syndrome
- Downs Syndrome
- Syndrome, Down's
- Trisomy G
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Below are MeSH descriptors whose meaning is more general than "Down Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Down Syndrome".
This graph shows the total number of publications written about "Down Syndrome" by people in this website by year, and whether "Down Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 0 | 1 | 1 | | 2006 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2008 | 2 | 0 | 2 | | 2010 | 0 | 1 | 1 | | 2011 | 1 | 0 | 1 | | 2012 | 1 | 1 | 2 | | 2013 | 2 | 0 | 2 | | 2014 | 3 | 1 | 4 | | 2015 | 0 | 2 | 2 | | 2016 | 3 | 0 | 3 | | 2017 | 2 | 0 | 2 |
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Below are the most recent publications written about "Down Syndrome" by people in Profiles.
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Xanthopoulos MS, Walega R, Xiao R, Prasad D, Pipan MM, Zemel BS, Berkowitz RI, Magge SN, Kelly A. Caregiver-Reported Quality of Life in Youth with Down Syndrome. J Pediatr. 2017 10; 189:98-104.e1.
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Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obregon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, Abdul-Rahman OA, Ekure EN, Adeyemo AA, Summar M, Linguraru MG, Muenke M. Down syndrome in diverse populations. Am J Med Genet A. 2017 Jan; 173(1):42-53.
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Hatch-Stein JA, Zemel BS, Prasad D, Kalkwarf HJ, Pipan M, Magge SN, Kelly A. Body Composition and BMI Growth Charts in Children With Down Syndrome. Pediatrics. 2016 10; 138(4).
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Wendel D, Weber D, Leonard MB, Magge SN, Kelly A, Stallings VA, Pipan M, Stettler N, Zemel BS. Body composition estimation using skinfolds in children with and without health conditions affecting growth and body composition. Ann Hum Biol. 2017 Mar; 44(2):108-120.
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Lewanda AF, Matisoff A, Revenis M, Harahsheh A, Futterman C, Nino G, Greenberg J, Myseros JS, Rosenbaum KN, Summar M. Preoperative evaluation and comprehensive risk assessment for children with Down syndrome. Paediatr Anaesth. 2016 Apr; 26(4):356-62.
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Freud LR, Escobar-Diaz MC, Kalish BT, Komarlu R, Puchalski MD, Jaeggi ET, Szwast AL, Freire G, Levasseur SM, Kavanaugh-McHugh A, Michelfelder EC, Moon-Grady AJ, Donofrio MT, Howley LW, Tierney ES, Cuneo BF, Morris SA, Pruetz JD, van der Velde ME, Kovalchin JP, Ikemba CM, Vernon MM, Samai C, Satou GM, Gotteiner NL, Phoon CK, Silverman NH, McElhinney DB, Tworetzky W. Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. Circulation. 2015 Aug 11; 132(6):481-9.
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Chendeb M, Tortorici C, Al Muhairi H, Al Safar H, Linguraru M, Werghi N. Landmark detection from 3D mesh facial models for image-based analysis of dysmorphology. Conf Proc IEEE Eng Med Biol Soc. 2015; 2015:169-72.
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Zhao Q, Okada K, Rosenbaum K, Kehoe L, Zand DJ, Sze R, Summar M, Linguraru MG. Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA. Med Image Anal. 2014 Jul; 18(5):699-710.
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Ooi YK, Sinha P, Gierdalski M, Harahsheh A. High-risk single ventricle palliation in children with Down syndrome: single institution experience. Cardiol Young. 2015 Mar; 25(3):539-43.
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Siu A, Rogers GF, Myseros JS, Khalsa SS, Keating RF, Magge SN. Unilateral coronal craniosynostosis and Down syndrome. J Neurosurg Pediatr. 2014 May; 13(5):568-71.
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