{"orpha":3411,"name":"Double uterus-hemivagina-renal agenesis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Double uterus and obstructed hemivagina syndrome","HWW syndrome","Herlyn-Werner-Wunderlich syndrome","OHVIRA syndrome","Obstructed hemivagina and ipsilateral renal anomaly"],"definition":"A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3411/","orphanet_url":"https://www.orpha.net/en/disease/detail/3411","names":{"fr":{"name":"Syndrome d'utérus double-hémivagin-agénésie rénale","synonyms":["Hémivagin obstrué et anomalie rénale ipsilatérale","Syndrome HWW","Syndrome OHVIRA","Syndrome de Herlyn-Werner-Wunderlich","Syndrome de double utérus et d'hémivagin obstrué"],"definition":"Anomalie urogénitale congénitale rare caractérisée par la présence d'un double utérus (didelphe, bicorne ou septum - complet ou partiel), d'une obstruction cervicale et vaginale unilatérale (hémivagin obstrué - communicant, non communicant ou cloisonné et atrésie cervicale unilatérale) et d'anomalies rénales ipsilatérales (agénésie rénale et/ou autres anomalies de l'appareil urinaire). Les patientes sont généralement diagnostiquées à la puberté, après la ménarche, en raison d'une dysménorrhée sévère et récurrente, de douleurs pelviennes chroniques, de pertes mucopurulentes excessives et malodorantes, de spottings et de saignements intermenstruels (en fonction de l'existence de communications utérines ou vaginales). Une fièvre, une dyspareunie et une masse abdominale, pelvienne ou vaginale palpable (mucocolpos ou pyocolpos) peuvent également être présentes."},"de":{"name":"Uterusverdoppelung-Hemivagina-Nierenagenesie-Syndrom","synonyms":["HWW-Syndrom","Herlyn-Werner-Wunderlich-Syndrom","OHVIRA-Syndrom","Obstruierte Hemivagina mit ipsilateraler Nierenagenesie","Syndrom der Uterusduplikatur mit obstruierter Hemivagina"],"definition":"Eine seltene angeborene urogenitale Anomalie, die durch das Vorhandensein eines doppelten Uterus (didelphys, bicornis oder Septum - vollständig oder teilweise), einer einseitigen zervikovaginalen Obstruktion (Obstruktion der Hemivagina - kommunizierend, nicht kommunizierend oder septiert - und einer einseitigen zervikalen Atresie) und ipsilateralen Nierenanomalien (Nierenagenesie und/oder andere Anomalien der Harnwege) gekennzeichnet ist. Die Diagnose wird in der Regel in der Pubertät nach der Menarche gestellt, und zwar aufgrund von wiederkehrenden schweren Dysmenorrhöen, chronischen Beckenschmerzen, übermäßigem, unangenehm riechendem mukopurulentem Ausfluss, Schmierblutungen und intermenstruellen Blutungen (je nach Vorhandensein von Uterus- oder Vaginalverbindungen). Fieber, Dyspareunie und eine tastbare Gewebeverdichtung im Unterleib, im Becken oder in der Scheide (Mukokolpos oder Pyokolpos) können ebenfalls vorhanden sein."},"es":{"name":"Síndrome de útero doble-hemivagina-agenesia renal","synonyms":["Anomalía renal ipsilateral y hemivagina obstruida","Síndrome OHVIRA","Síndrome de Herlyn-Werner-Wunderlich","Síndrome de doble útero y hemivagina obstruida"],"definition":"Es una anomalía urogenital congénita poco frecuente caracterizada por la presencia de un útero doble (didelfo, bicorne o septo-completo o parcial), obstrucción cervicovaginal unilateral (hemivagina obstruida -comunicante, no comunicante o septada- y atresia cervical unilateral) y anomalías renales ipsilaterales (agenesia renal y/u otras anomalías del tracto urinario). Las pacientes suelen ser diagnosticadas en la pubertad después de la menarquia debido a intensa dismenorrea recurrente, dolor pélvico crónico, secreción mucopurulenta fétida, manchado y sangrado intermenstrual (dependiendo de la existencia de comunicaciones uterinas o vaginales). También puede asociar dispareunia y una masa abdominal, pélvica o vaginal, palpable (mucocolpos o piocolpos)."},"it":{"name":"Sindrome utero doppio-emivagina-agenesia renale","synonyms":["Sindrome HWW","Sindrome OHVIRA","Sindrome dell'utero doppio e dell'emivagina ostruita","Sindrome Herlyn-Werner-Wunderlich","Emivagina ostruita e anomalia renale ipsilaterale"]},"nl":{"name":"Dubbele uterus - hemivagina - renale agenesie-syndroom","synonyms":["Dubbele uterus en geobstrueerde hemivagina-syndroom","Geobstrueerde hemivagina en ipsilaterale nieranomalie","HWW-syndroom","OHVIRA-syndroom","Syndroom van Herlyn-Werner-Wunderlich"],"definition":"Een zeldzame congenitale urogenitale anomalie, gekarakteriseerd door de aanwezigheid van dubbele uterus (didelphys, bicornis of septum - compleet of partieel), unilaterale cervicovaginale obstructie (geobstrueerde hemivagina - communicerend, niet-communicerend of atresie van septum en unilaterale atresie van cervix), en ipsilaterale nieranomalieën (agenesie van nier en/of andere anomalieën van urinewegen). Patiënten worden meestal gediagnosticeerd in de puberteit na menarche vanwege recidiverende ernstige dysmenorroe, chronische pijn in bekken, excessieve stinkende mucopurulente afscheiding, spotting en intermenstruele bloeding (afhankelijk van het bestaan van uteriene of vaginale communicaties). Koorts, dyspareunie, en een palpabele abdominale, pelviene of vaginale massa (mucocolpos of pyocolpos) kunnen ook aanwezig zijn."},"pt":{"name":"Síndrome de duplo útero-hemivagina-agenesia renal","synonyms":["HWW","Hemivagina obstruída e anomalia renal ipsilateral","Síndrome Herlyn-Werner-Wunderlich","Síndrome OHVIRA","Síndrome de duplo útero e vagina obstruída"]},"pl":{"name":"Podwójna macica - niedrożna szczątkowa pochwa - agnezja nerki","synonyms":["Niedrożna szczątkowa pochwa - anomalia nerki po tej samej stronie","Zespół Herlyn i Wernera","Zespół OHVIRA","Zespół podwójna macica - niedrożna szczątkowa pochwa","Zespół Wunderlicha"]},"cs":{"name":"Syndrom zahrnující zdvojení dělohy, hemivaginu a agenezi ledvin","synonyms":["OHVIRA syndrom","Syndrom zahrnující zdvojení dělohy a obstrukční hemivaginu","Herlynův-Wernerův syndrom","Obstrukční hemivagina a ipsilaterální anomálie ledviny","Wunderlichův syndrom","Herlyn-Wernerův syndrom"]},"uk":{"name":"Синдром подвійної матки-гемівагини-ниркової агенезії","synonyms":["Синдром подвійної матки та непрохідної гемівагіни","Синдром Герліна-Вернера","Непрохідна гемівагіна та іпсилатеральна аномалія нирок","Синдром OHVIRA","Синдром Вундерліха"],"definition":"A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present."},"zh":{"name":"双子宫-半阴道-肾发育不全综合征","synonyms":["梗阻性半阴道-同侧肾发育不全综合征"]},"tr":{"name":"Çift uterus-hemivajina-renal agenez sendromu","synonyms":["OHVIRA sendromu","Wunderlich sendromu","Herlyn-Werner sendromu","Çift uterus ve tıkalı hemivajina sendromu","Tıkalı hemivajina ve ipsilateral böbrek anomalisi"]}},"xrefs":[{"source":"OMIM","code":"192050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q51.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1288372363"},{"source":"MONDO","code":"0008636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302552","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1910","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083351","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,188,233]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]},{"orpha":180148,"name":"Syndromic uterovaginal malformation","classifications":[205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-21","source":"934555[PMID]","terms":[{"hpo":"HP:0012888","label":"Abnormality of the uterine cervix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100607","label":"Dysmenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030016","label":"Dyspareunia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030711","label":"Hydrocolpos","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100608","label":"Metrorrhagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008670","label":"Partial vaginal septum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Very frequent (99-80%)","criteria":null}]}}