{"orpha":1756,"name":"Caudal duplication","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dipygus","Split notochord syndrome"],"definition":"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1756/","orphanet_url":"https://www.orpha.net/en/disease/detail/1756","names":{"fr":{"name":"Duplication caudale","synonyms":["Dipygus","Syndrome de la chorde dorsale fendue"],"definition":"La duplication caudale est une anomalie rare du développement caractérisée par divers degrés de duplication des structures dérivées du cloaque et de la notochorde embryonnaires."},"de":{"name":"Duplikation, kaudale","synonyms":["Dipygus","Split notochord-Syndrom","Syndrom des 'Doppelstei'","Syndrom des 'Doppelsteiß'"]},"es":{"name":"Duplicación caudal","synonyms":["Dipigo","Síndrome de notocorda dividida"],"definition":"Es una anomalía poco frecuente del desarrollo en la que las estructuras derivadas de la cloaca embrionaria y la notocorda están duplicadas en extensiones variables."},"it":{"name":"Duplicazione caudale","synonyms":["Dipigo","Sindrome da schisi della notocorda"]},"nl":{"name":"Caudale duplicatie","synonyms":["Dipygus","Gespleten chorda dorsalis-syndroom"],"definition":"Caudale duplicatie (CD) is een zeldzame ontwikkelingsstoornis waarbij structuren, afgeleid van de embryonale cloaca en notochorda, in verschillende mate gedupliceerd worden."},"pt":{"name":"Duplicação caudal","synonyms":["Dipigo","Síndrome fenda do notocórdio"]},"pl":{"name":"Zdwojenie kaudalne","synonyms":["Dipygus","Zespół rozszczepionej struny grzbietowej"]},"cs":{"name":"Kaudální duplikace","synonyms":["Dipygus","Syndrom rozštěpení notochordu"]},"uk":{"name":"Каудальна дуплікація","synonyms":["Дипігус","Синдром розщеплення нотохорда"],"definition":"Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents."},"zh":{"name":"尾重复综合症","synonyms":["脊索分裂综合征"]},"tr":{"name":"Kaudal duplikasyon","synonyms":["Dipigus","Bölünmüş notokord sendromu"]}},"xrefs":[{"source":"OMIM","code":"607864","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1949559803"},{"source":"MONDO","code":"0011928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266688","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1164","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"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:0005107","label":"Abnormal sacrum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009791","label":"Bifid sacrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100668","label":"Intestinal duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Occasional (29-5%)","criteria":null}]}}