{"orpha":3378,"name":"Trisomy 13 syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Patau syndrome"],"definition":"A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3378/","orphanet_url":"https://www.orpha.net/en/disease/detail/3378","names":{"fr":{"name":"Syndrome de trisomie 13","synonyms":["Syndrome de Patau"],"definition":"Anomalie chromosomique rare caractérisée par la présence d'un chromosome 13 surnuméraire, se manifestant par une déficience intellectuelle sévère et de multiples anomalies congénitales dont une holoprosencéphalie, une microcéphalie, une microphtalmie, des anomalies du cuir chevelu, une fente labiale/palatine, des malformations cardiaques congénitales et une polydactylie post-axiale. L'atteinte neurologique peut entraîner des convulsions et une hypotonie."},"de":{"name":"Trisomie 13","synonyms":["Pätau-Syndrom"],"definition":"Eine seltene Chromosomenanomalie, die durch das Vorhandensein von zusätzlichem Chromosom-13-Material gekennzeichnet ist und sich durch eine schwere Intelligenzminderung und mehrere kongenitale Anomalien wie Holoprosenzephalie, Mikrozephalie, Mikrophthalmie, Kopfhautdefekt, Lippen-Kiefer-Gaumenspalte, kongenitale Herzfehler und postaxiale Polydaktylie äußert. Eine neurologische Beteiligung kann zu Krampfanfällen und Hypotonie führen."},"es":{"name":"Síndrome de trisomía 13","synonyms":["Síndrome de Patau"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por la presencia de material adicional en el cromosoma 13 y que se manifiesta con discapacidad intelectual grave y múltiples anomalías congénitas que incluyen holoprosencefalia, microcefalia, microftalmia, anomalía del cuero cabelludo, labio leporino/fisura palatina, cardiopatía congénita y polidactilia postaxial. La afectación neurológica puede provocar crisis epilépticas e hipotonía."},"it":{"name":"Sindrome trisomia 13","synonyms":["Sindrome di Patau"]},"nl":{"name":"Trisomie 13-syndroom","synonyms":["Syndroom van Patau"],"definition":"Een zeldzame chromosomale afwijking, gekenmerkt door de aanwezigheid van extra materiaal van chromosoom 13, en met als manifestaties ernstige intellectuele achterstand en meervoudige congenitale anomalieën waaronder holoprosencefalie, microcefalie, microftalmie, defect van scalp, gespleten lip/gehemelte, congenitale hartdefecten, en postaxiale polydactylie. Neurologische betrokkenheid kan leiden tot insulten en hypotonie."},"pt":{"name":"Síndrome trissomia 13","definition":"Uma anomalia cromossómica rara caracterizada pela presença de material extra do cromossoma 13 e que se manifesta com perturbação do desenvolvimento intelectual grave e múltiplas anomalias congénitas, incluindo holoprosencefalia, microcefalia, microftalmia, defeito do couro cabeludo, fenda labial/palatina, defeitos cardíacos congénitos e polidactilia pós-axial. O envolvimento neurológico pode originar convulsões e hipotonia."},"pl":{"name":"Zespół trisomii chromosomu 13","synonyms":["Zespół Patau'a"],"definition":"Rzadka anomalia chromosomowa charakteryzująca się obecnością dodatkowego materiału na chromosomie 13. Objawia się ciężką niepełnosprawnością intelektualną oraz licznymi wadami wrodzonymi, w tym holoprozencefalią, małogłowiem, małooczem, wadą skóry głowy, rozszczepem wargi/podniebienia, wrodzonymi wadami serca i polidaktylią pozaosiową. Zajęcie układu nerwowego może prowadzić do drgawek i hipotonii."},"cs":{"name":"Trizomie 13","synonyms":["Patauův syndrom"]},"uk":{"name":"Трисомія 13","synonyms":["Синдром Патау"],"definition":"A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia."},"zh":{"name":"13号染色体三体","synonyms":["Patau综合征"]},"tr":{"name":"Trizomi 13","synonyms":["Patau sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q91.4","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q91.5","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q91.6","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q91.7","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD40.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1435958084"},{"source":"MONDO","code":"0018068","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000073839","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936830","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7341","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044686","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":"1-9 / 100 000","value":3.7,"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":2.9,"area":"Belgium","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":4.8,"area":"Germany","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":7.2,"area":"Ireland","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":24.1,"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":4.8,"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":2.2,"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":5.0,"area":"United Kingdom","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":3.3,"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":18.0,"area":"Japan","status":"Validated","source":"2092586[PMID]_7424972[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.9,"area":"Japan","status":"Not yet validated","source":"2092586[PMID]_7424972[PMID]_ ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.6,"area":"United States","status":"Validated","source":"20878909[PMID]_Center for Diseases Control and Prevention[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"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":9.8,"area":"Austria","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":1.1,"area":"Hungary","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":1.4,"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":"1-9 / 100 000","value":5.2,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"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":13.2,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2007[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","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:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008053","label":"Aplasia/Hypoplasia of the iris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100627","label":"Displacement of the urethral meatus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Frequent (79-30%)","criteria":null}]}}