{"orpha":3380,"name":"Trisomy 18 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chromosome 18 duplication","Edwards syndrome"],"definition":"A rare chromosomal abnormality characterized by the presence of an extra chromosome 18 material and manifesting with severe intellectual disability growth delay, and extremely variable multiple congenital anomalies, including minor malformations (cranio-facial dysmorphia, short sternum, overlapping fingers) and major malformations, especially cardiac and cerebral. Neurological involvement may lead to seizures and hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3380/","orphanet_url":"https://www.orpha.net/en/disease/detail/3380","names":{"fr":{"name":"Syndrome de trisomie 18","synonyms":["Duplication du chromosome 18","Syndrome d'Edwards"],"definition":"Anomalie chromosomique rare caractérisée par la présence d'un chromosome 18 surnuméraire, se manifestant par une déficience intellectuelle sévère, un retard de croissance et de multiples anomalies congénitales extrêmement variables, comprenant des malformations mineures (dysmorphie craniofaciale, sternum court, chevauchement des doigts) et des malformations majeures, en particulier cardiaques et cérébrales. L'atteinte neurologique peut entraîner des crises convulsives et une hypotonie."},"de":{"name":"Trisomie 18","synonyms":["Chromosom 18-Duplikation","Edwards-Syndrom"],"definition":"Eine seltene Chromosomenanomalie, die durch das Vorhandensein eines zusätzlichen Chromosoms (18) gekennzeichnet ist und sich durch eine schwere Intelligenzminderung, Wachstumsverzögerung und extrem variable multiple kongenitale Anomalien auszeichnet, einschließlich kleinerer Fehlbildungen (kranio-faziale Dysmorphie, kurzes Brustbein, überlappende Finger) und größerer Fehlbildungen, insbesondere kardialer und zerebraler Art. Eine neurologische Beteiligung kann zu Krampfanfällen und Hypotonie führen."},"es":{"name":"Síndrome de trisomía 18","synonyms":["Duplicación del cromosoma 18","Síndrome de Edwards"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por la presencia de material extra del cromosoma 18 y que se manifiesta con discapacidad intelectual grave, retraso del crecimiento y múltiples anomalías congénitas extremadamente variables, que incluyen malformaciones menores (dismorfia cráneo-facial, esternón corto, dedos superpuestos) y malformaciones mayores, particularmente cardíacas y cerebrales. La afectación neurológica puede provocar crisis epilépticas e hipotonía."},"it":{"name":"Sindrome trisomia 18","synonyms":["Duplicazione del cromosoma 18","Sindrome di Edwards"]},"nl":{"name":"Trisomie 18-syndroom","synonyms":["Chromosoom 18-duplicatie","Syndroom van Edwards"],"definition":"Een zeldzame chromosomale afwijking, gekenmerkt door de aanwezigheid van extra materiaal van chromosoom 18, dat zich manifesteert met ernstige intellectuele achterstand, groeiachterstand, en extreem variabele multipele congenitale anomalieën, waaronder minieme malformaties (craniofaciale dysmorfie, kort sternum, overlappende vingers) en ernstige malformaties, vooral van het hart en de hersenen. Neurologische betrokkenheid kan leiden tot insulten en hypotonie."},"pt":{"name":"Síndrome trissomia 18","synonyms":["Duplicação 18"],"definition":"Uma anomalia cromossómica rara caracterizada pela presença de material extra do cromossoma 18 e que se manifesta com perturbação do desenvolvimento intelectual grave, atraso no crescimento e múltiplas anomalias congénitas extremamente variáveis, incluindo malformações menores (dismorfia craniofacial, esterno curto, dedos sobrepostos) e malformações maiores, especialmente cardíacas e cerebrais. O envolvimento neurológico pode originar convulsões e hipotonia."},"pl":{"name":"Zespół trisomii chromosomu 18","synonyms":["Duplikacja chromosomu 18","Zespół Edwardsa"],"definition":"Trisomia 18 to aberracja chromosomowa związana z obecnością dodatkowego chromosomu 18. Charakteryzuje się opóźnieniem wzrostu, dolichocefalią, charakterystyczną twarzą, anomaliami kończyn i wadami rozwojowymi narządów wewnętrznych."},"cs":{"name":"Trizomie 18","synonyms":["Duplikace chromozomu 18","Edwardsův syndrom"]},"uk":{"name":"Трисомія 18","synonyms":["Дуплікація хромосоми 18","Синдром Едвардса"],"definition":"Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations."},"zh":{"name":"18号染色体三体","synonyms":["18号染色体三体"]},"tr":{"name":"Trizomi 18","synonyms":["Edwards sendromu","Kromozom 18 duplikasyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q91.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q91.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q91.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q91.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD40.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1505179968"},{"source":"MONDO","code":"0018071","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000073842","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4317091","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6321","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053884","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":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]},{"orpha":98131,"name":"Total autosomal trisomy syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.7,"area":"Worldwide","status":"Not yet validated","source":"23088440[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.8,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2007[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Hungary","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":25.3,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.1,"area":"Italy","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":11.4,"area":"Netherlands","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":11.2,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":10.4,"area":"Europe","status":"Validated","source":"22713804[PMID]_EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.9,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Germany","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":48.2,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.5,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"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":24.6,"area":"Switzerland","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":13.0,"area":"United Kingdom","status":"Validated","source":"20384468 [PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.5,"area":"Ukraine","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":14.6,"area":"Croatia","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":38.8,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"Japan","status":"Validated","source":"2092586[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Japan","status":"Validated","source":"2092586[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.1,"area":"United States","status":"Not yet validated","source":"ORPHANET_18348276[PMID]_20878909[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"Specific population","status":"Validated","source":"10627940[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-18","source":"34033359[PMID]_23088440[PMID]","terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003275","label":"Narrow pelvis bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100810","label":"Pointed helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","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:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002190","label":"Choroid plexus cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004646","label":"Hypoplasia of the nasal bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010557","label":"Overlapping fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001188","label":"Hand clenching","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000879","label":"Short sternum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null}]}}