{"orpha":93929,"name":"Cloacal exstrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["OEIS complex","Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"],"definition":"A rare congenital genitourinary malformation characterized by urogenital, gastrointestinal, skeletal and neurospinal anomalies. It is the most severe part of the spectrum of the exstrophy-epispadias complex (EEC) and is also referred as the OEIS complex (omphalocele, exstrophy, imperforate anus and spinal defects).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93929/","orphanet_url":"https://www.orpha.net/en/disease/detail/93929","names":{"fr":{"name":"Exstrophie cloacale","synonyms":["Complexe OEIS","Syndrome d'omphalocèle-exstrophie cloacale-anus imperforé-anomalie spinale","Séquence OEIS","Séquence d'omphalocèle-exstrophie cloacale-anus imperforé-anomalie spinale"],"definition":"Malformation urogénitale congénitale rare, caractérisée par des anomalies urogénitales, gastro-intestinales, squelettiques et neurospinales. Il s'agit de la forme la plus sévère du spectre du complexe exstrophie vésicale-épispadias (CEE), également appelé complexe OEIS (omphalocèle, exstrophie, imperforation anale et défauts spinaux)."},"de":{"name":"Kloakenekstrophie","synonyms":["OEIS-Komplex","Omphalozele-Kloakenekstrophie-Anus imperforatus-Spinaldefekt-Syndrom"],"definition":"Eine seltene angeborene Fehlbildung des Urogenitalsystems, die durch urogenitale, gastrointestinale, skelettale und neurospinale Anomalien gekennzeichnet ist. Sie ist der schwerste Teil des Spektrums des Exstrophie-Epispadie-Komplexes (EEC) und wird auch als OEIS-Komplex (Omphalozele, Exstrophie, Analatresie und Wirbelsäulendefekte) bezeichnet."},"es":{"name":"Extrofia cloacal","synonyms":["Complejo OEIS","Síndrome de onfalocele-extrofia cloacal-ano imperforado-defectos espinales"],"definition":"Es una malformación genitourinaria congénita poco frecuente, caracterizada por anomalías urogenitales, gastrointestinales, esqueléticas y neuroespinales. Representa el extremo más grave del espectro del complejo extrofia-epispadias (CEE), también conocido como complejo OEIS (onfalocele, extrofia cloacal, ano imperforado y defectos espinales)."},"it":{"name":"Estrofia della cloaca","synonyms":["Complesso OEIS","Onfalocele - estrofia della cloaca - ano imperforato - anomalie spinali"]},"nl":{"name":"Exstrofie van cloaca","synonyms":["OEIS-complex","Omfalocele - cloacale exstrofie - anusatresie - spinaal defect-syndroom"],"definition":"Een zeldzame congenitale urogenitale malformatie, gekenmerkt door urogenitale, gastro-intestinale, skeletale en neurospinale anomalieën. Het is het meest ernstige deel van het spectrum van exstrofie - epispadie-complex (EEC) en is ook gekend als OEIS-complex (omfalocele, exstrofie, anusatresie en spinale defecten)."},"pt":{"name":"Extrofia da cloaca"},"pl":{"name":"Wynicowanie kloaki","synonyms":["Kompleks OEIS","Przepuklina pępowinowa - wynicowanie kloaki - zarośnięcie odbytu - defect rdzenia"],"definition":"Rzadka wrodzona wada układu moczowo-płciowego charakteryzująca się anomaliami układu moczowo-płciowego, żołądkowo-jelitowego, szkieletowego i rdzenia kręgowego. Jest to najcięższa część spektrum ekstrofii i wierzchniactwa, określa się ją również jako zespół OEIS (przepuklina pępowinowa, ekstrofia, niedrożność odbytu i wady kręgosłupa)."},"cs":{"name":"Kloakální extrofie","synonyms":["OEIS komplex","Syndrom zahrnující pupeční kýlu, kloakální extrofii, anální atrézii a páteřní defekt"]},"uk":{"name":"Клоакальна екстрофія","synonyms":["Комплекс ОЕІС","Синдром омфалоцеле-клоакальної екстрофії-імперфорованого ануса-спинномозкового дефекту"],"definition":"A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations."},"zh":{"name":"泄殖腔外翻","synonyms":["脐膨出-泄殖腔外翻-肛门闭锁-脊柱缺损综合征"],"definition":"膀胱外翻-尿道上裂复合畸形（EEC）谱系中最严重的一种出生缺陷，其特征是脐膨出、膀胱外翻、肛门闭锁和脊柱缺损（也称为OEIS综合征），常伴有其他畸形。"},"tr":{"name":"Kloakal ekstrofi","synonyms":["OEIS kompleksi","Omfalosel-kloakal ekstrofi-imperforat anüs-spinal defekt sendromu"]}},"xrefs":[{"source":"OMIM","code":"258040","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q64.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB17.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2004612103"},{"source":"MONDO","code":"0009774","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850321","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4080","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067424","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":322,"name":"Exstrophy-epispadias complex","classifications":[147,156,182,185,188,233]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.75,"area":"Europe","status":"Not yet validated","source":"19878548[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"19878548[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"United States","status":"Validated","source":"17990338[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Spain","status":"Validated","source":"11251990[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.54,"area":"Worldwide","status":"Not yet validated","source":"22002951[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000056","label":"Abnormality of the clitoris","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002836","label":"Bladder exstrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010475","label":"Cloacal exstrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011301","label":"Absent foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002937","label":"Hemivertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100668","label":"Intestinal duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Occasional (29-5%)","criteria":null}]}}