{"orpha":887,"name":"VACTERL/VATER association","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["VACTERL association","VATER association","Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association"],"definition":"A rare multiple congenital anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-887/","orphanet_url":"https://www.orpha.net/en/disease/detail/887","names":{"fr":{"name":"Association VACTERL/VATER","synonyms":["Association VACTERL","Association VATER","Association de malformations vertébrales-atrésie anale-anomalies cardiaques-fistule trachéo-oesophagienne-anomalie rénale-anomalie des membres"],"definition":"Anomalies congénitales multiples rares caractérisées par la présence d'au moins trois des malformations suivantes : anomalies vertébrales, atrésie anale, malformations cardiaques, fistule trachéo-oesophagienne, malformations rénales et anomalies des membres."},"de":{"name":"VACTERL/VATER-Assoziation","synonyms":["VACTERL-Assoziation","VATER-Assoziation"],"definition":"Eine seltene multiple kongenitale Anomalie, die durch das Vorhandensein von mindestens drei der folgenden Fehlbildungen gekennzeichnet ist: Wirbeldefekte, anale Atresie, Herzfehler, tracheo-ösophageale Fistel, Nierenanomalien und Gliedmaßenanomalien."},"es":{"name":"Asociación VACTERL/VATER","synonyms":["Asociación VACTERL","Asociación VATER"],"definition":"s una asociación poco frecuente de múltiples anomalías congénitas caracterizada por la presencia de al menos tres de las siguientes malformaciones: defectos vertebrales, atresia anal, defectos cardíacos, fístula traqueoesofágica, anomalías renales y anomalías de las extremidades."},"it":{"name":"Associazione VACTERL/VATER","synonyms":["Associazione VACTERL","Associazione VATER"],"definition":"VACTERL/VATER è un'associazione di difetti congeniti, caratterizzati tipicamente da almeno tre dei seguenti segni: difetti vertebrali, atresia anale, cardiopatie, fistola tracheo-esofagea, anomalie renali e degli arti."},"nl":{"name":"VACTERL/VATER-associatie","synonyms":["VACTERL-associatie","VATER-associatie"],"definition":"Een zeldzame associatie van multipele congenitale malformaties, gekenmerkt door de aanwezigheid van minstens drie van de volgende malformaties: vertebrale defecten, anusatresie, hartdefecten, tracheo-oesofageale fistel, nieranomalieën, en afwijkingen van ledematen."},"pt":{"name":"Associação VACTERL/VATER","synonyms":["Associação VACTERL","Associação VATER"],"definition":"Uma anomalia congénita múltipla rara caracterizada pela presença de pelo menos três das seguintes malformações: defeitos vertebrais, atresia anal, defeitos cardíacos, fístula traqueoesofágica, anomalias renais e anomalias nos membros."},"pl":{"name":"Asocjacja VACTERL/VATER","synonyms":["Asocjacja VACTERL","Asocjacja VATER"],"definition":"Rzadka, mnoga wada wrodzona charakteryzująca się obecnością co najmniej trzech z następujących wad rozwojowych: wady kręgów, zarośnięcie odbytu, wady serca, przetoka tchawiczo-przełykowa, wady nerek, wady kończyn."},"cs":{"name":"VACTERL/VATER asociace","synonyms":["VACTERL asociace","VATER asociace"]},"uk":{"name":"Асоціація VACTERL/VATER","synonyms":["Асоціація VACTERL","Асоціація VATER","Вади хребта - атрезія анального отвору - вади серця - трахео-стравохідна нориця - аномалії нирок - аномалії кінцівок асоціація"],"definition":"A rare multiple congenital anomalies characterized by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."},"zh":{"name":"VACTERL/VATER联合征","synonyms":["VACTERL联合征"]},"tr":{"name":"VACTERL / VATER birlikteliği","synonyms":["VATER asosiasyonu","VACTERL asosiasyonu"]}},"xrefs":[{"source":"OMIM","code":"192350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1452617987"},{"source":"MONDO","code":"0008642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225671","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5443","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":108961,"name":"Syndromic esophageal malformation","classifications":[147,182]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"HOXD13","name":"homeobox D13","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19006232[PMID]","hgnc":"5136","ensembl":"ENSG00000128714","omim":"142989","loci":["2q31.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.25,"area":"Europe","status":"Validated","source":"21846383[PMID]_[EXPERT]_ ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005264","label":"Abnormality of the gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000795","label":"Abnormality of the urethra","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002323","label":"Anencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Occasional (29-5%)","criteria":null}]}}