{"orpha":870,"name":"Down syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Trisomy 21"],"definition":"A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-870/","orphanet_url":"https://www.orpha.net/en/disease/detail/870","names":{"fr":{"name":"Trisomie 21","synonyms":["Syndrome de Down"],"definition":"Trisomies totales des autosomes causées par la présence d'une troisième copie (partielle ou totale) du chromosome 21 et caractérisées par une déficience intellectuelle de degré variable, une hypotonie musculaire et une laxité articulaire, souvent associées à une dysmorphie faciale caractéristique et à diverses anomalies, telles que des anomalies cardiaques, gastro-intestinales, neurosensorielles ou endocriniennes."},"de":{"name":"Down-Syndrom","synonyms":["Trisomie 21"],"definition":"Eine totale autosomale Trisomie, die durch das Vorhandensein einer dritten (partiellen oder vollständigen) Kopie des Chromosoms 21 verursacht wird und die durch eine variable Intelligenzminderung, Muskelhypotonie und Gelenklaxität gekennzeichnet ist, oft verbunden mit einem charakteristischen Gesichtsdysmorphismus und verschiedenen Anomalien wie kardialen, gastrointestinalen, neurosensorischen oder endokrinen Defekten."},"es":{"name":"Síndrome de Down","synonyms":["Trisomía 21"],"definition":"Es una trisomía autosómica total causada por la presencia de una tercera copia (parcial o total) del cromosoma 21 y que está caracterizada por discapacidad intelectual variable, hipotonía muscular y laxitud articular, a menudo asociadas con dismorfia facial característica y diversas anomalías, como defectos cardíacos, gastrointestinales, neurosensoriales o endocrinos."},"it":{"name":"Sindrome di Down","synonyms":["Trisomia 21"],"definition":"La sindrome di Down (SD) è una trisomia autosomica completa, causata dalla presenza di una terza copia (parziale o totale) del cromosoma 21. È caratterizzata da disabilità intellettiva di grado variabile, ipotonia muscolare e lassità articolare, spesso associate a dismorfismi facciali caratteristici e diverse anomalie (cardiopatie e difetti gastrointestinali, neurosensoriali o endocrini)."},"nl":{"name":"Syndroom van Down","synonyms":["Downsyndroom","Trisomie 21"],"definition":"Een volledige autosomale trisomie die veroorzaakt wordt door de aanwezigheid van een derde (gedeeltelijk of geheel) kopie van chromosoom 21 en die gekarakteriseerd wordt door variabele intellectuele achterstand, musculaire hypotonie, en gewrichtslaxiteit, vaak geassocieerd met een kenmerkende faciale dysmorfie en verschillende anomalieën zoals cardiale, gastro-intestinale, neurosensorische of endocriene defecten."},"pt":{"name":"Síndrome Down","synonyms":["Síndrome de Down","Trissomia 21"],"definition":"Trissomia autossómica completa causada pela presença de uma terceira cópia (parcial ou total) do cromossoma 21 e caracterizada por perturbação do desenvolvimento intelectual em grau variável, hipotonia muscular e hipermobilidade articular, frequentemente associada a dismorfia facial característica e várias anomalias a nível cardíaco, gastrointestinal, neurossensorial ou endocrinológico."},"pl":{"name":"Zespół Downa","synonyms":["Trisomia 21"],"definition":"Całkowita trisomia autosomu spowodowana obecnością trzeciej kopii chromosomu 21 (fragmentu lub całego chromosomu), charakteryzująca się niepełnosprawnością intelektualną, obniżeniem napięcia mięśniowego i wiotkością stawów, często powiązana z charakterystyczną dysmorfią twarzy oraz różnymi wadami narządowymi: serca, przewodu pokarmowego, narządów zmysłów lub układu dokrewnego."},"cs":{"name":"Downův syndrom","synonyms":["Trizomie 21"]},"uk":{"name":"Синдром Дауна","synonyms":["Трисомія 21"],"definition":"A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects."},"zh":{"name":"唐氏综合征","synonyms":["21-三体"]},"tr":{"name":"Down sendromu","synonyms":["Trizomi 21"]}},"xrefs":[{"source":"OMIM","code":"190685","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q90.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q90.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q90.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q90.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD40.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1624623908"},{"source":"MONDO","code":"0008608","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004314","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013080","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10247","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044688","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":98571,"name":"Secondary ectropion","classifications":[147,156,189]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]},{"orpha":522564,"name":"Syndromic genetic keratoconus","classifications":[156]},{"orpha":98623,"name":"Syndromic keratoconus","classifications":[189]},{"orpha":98576,"name":"Syndromic outer canthal malposition","classifications":[147,156,189]},{"orpha":98131,"name":"Total autosomal trisomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":95.0,"area":"Worldwide","status":"Validated","source":"World Health Organization[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"World Health Organization[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":101.0,"area":"Europe","status":"Validated","source":"33130823[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":57.0,"area":"Europe","status":"Validated","source":"33130823[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":63.7,"area":"France","status":"Validated","source":"OTHERitut de Veille Sanitaire 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":98.3,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":70.0,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":74.0,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":91.2,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":110.0,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":69.0,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":38.0,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":91.6,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":98.0,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":66.0,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":59.0,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":44.0,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":75.0,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":235.0,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":100.0,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":174.0,"area":"Japan","status":"Validated","source":"18412274[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":66.0,"area":"United Kingdom","status":"Validated","source":"23321618[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":126.0,"area":"United States","status":"Validated","source":"25822844[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":130.0,"area":"South Africa","status":"Validated","source":"9373864[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-07-20","source":"30252272[PMID]","terms":[{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100830","label":"Round ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002511","label":"Alzheimer disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006733","label":"Acute megakaryocytic leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003414","label":"Atlantoaxial dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001909","label":"Leukemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Very rare (<4-1%)","criteria":null}]}}