{"orpha":2704,"name":"Urofacial syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hydronephrosis-inverted smile syndrome","Inverted smile-neurogenic bladder syndrome","Ochoa facial syndrome","Ochoa syndrome","Partial facial palsy with urinary abnormalities"],"definition":"A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2704/","orphanet_url":"https://www.orpha.net/en/disease/detail/2704","names":{"fr":{"name":"Syndrome urofacial","synonyms":["Syndrome d'Ochoa","Syndrome d'hydronéphrose-sourire inversé","Syndrome de paralysie faciale partielle-anomalies urinaires","Syndrome de sourire inversé-vessie neurologique","Syndrome facial d'Ochoa","Syndrome uro-facial"],"definition":"Anomalie syndromique rare du développement des voies urinaires caractérisée par l'association d'un dysfonctionnement sévère de la vidange vésicale et d'une inversion de la mimique lors des cris et des pleurs chez l'enfant."},"de":{"name":"Urofaziales Syndrom","synonyms":["Invertiertes Lächeln - okkulte neuropathische Blase","Invertiertes Lächeln-neurogene Harnblase-Syndrom","Ochoa-Syndrom","Partielle Gesichtslähmung mit Anomalie der Harnwege","Syndrom der Hydronephrose mit umgekehrtem Lächeln"],"definition":"Eine seltene syndromale Fehlbildung der Harnwege, die durch die Assoziation von schwerer Blasenentleerungsstörung und Inversion des Gesichtsausdrucks beim Lächeln oder Weinen des Kindes gekennzeichnet ist."},"es":{"name":"Síndrome urofacial","synonyms":["Parálisis facial parcial con anomalías del tracto urinario","Síndrome de Ochoa","Síndrome de hidronefrosis-sonrisa invertida","Síndrome de sonrisa invertida-vejiga neurógena","Síndrome facial de Ochoa"],"definition":"Es una malformación sindrómica poco frecuente del tracto urinario caracterizada por la asociación de disfunción vesical grave e inversión de la expresión facial cuando el niño sonríe o llora."},"it":{"name":"Sindrome urofacciale","synonyms":["Idronefrosi - sorriso invertito","Paralisi facciale parziale associata ad anomalie urinarie","Sindrome di Ochoa","Sindrome facciale di Ochoa","Sindrome idronefrosi-sorriso invertito","Sindrome sorriso invertito-vescica nefropatica occulta","Sorriso invertito - vescica nefropatica occulta"]},"nl":{"name":"Urofaciaal syndroom","synonyms":["Gedeeltelijke aangezichtsverlamming met urinewegafwijkingen","Hydronefrose - omgekeerde glimlach-syndroom","Omgekeerde glimlach - neurogene blaas-syndroom","Syndroom van Ochoa"],"definition":"Een zeldzame syndromale urinewegstelsel malformatie, gekenmerkt door de associatie van ernstige disfunctionele mictie en inversie van gelaatsuitdrukking wanneer het kind lacht of weent."},"pt":{"name":"Síndrome urofacial","synonyms":["Paralisia facial parcial com anomalias urinárias","Síndrome Ochoa","Síndrome de hidronefrose-sorriso invertido","Síndrome de sorriso invertido-bexiga neurogénica","Síndrome facial Ochoa"],"definition":"Malformação sindrómica rara do trato urinário caracterizada pela associação de disfunção miccional grave e inversão da expressão facial quando a criança sorri ou chora."},"pl":{"name":"Zespół Ochoa","synonyms":["Częściowy paraliż twarzy z wadami układu moczowego","Odwrócony uśmiech - pęcherz neurogenny","Wodonercze - odwrócony uśmiech","Zespół moczowo-twarzowy"],"definition":"Rzadka syndromiczna wada układu moczowego, która charakteryzuje się ciężką dysfunkcją w oddawaniu moczu i odwróconą ekspresją twarzy, gdy dziecko uśmiecha się lub płacze."},"cs":{"name":"Ochoaův syndrom","synonyms":["Urofaciální syndrom","Syndrom zahrnující hydronefrózu a opačný úsměv","Syndrom zahrnující opačný úsměv a neurogenní měchýř","Částečná obrna obličeje s močovými abnormalitami"]},"uk":{"name":"Урофаціальний синдром","synonyms":["Синдром перевернутої посмішки при гідронефрозі","Синдром перевернутої посмішки - нейрогенний сечовий міхур","Синдром обличчя Очоа","Синдром Очоа","Частковий параліч обличчя з порушеннями сечовипускання"],"definition":"A rare syndromic urinary tract malformation characterized by the association of severe voiding dysfunction and inversion of facial expression when the child smiles or cries."},"zh":{"name":"Ochoa综合征","synonyms":["部分面部麻痹伴泌尿系统异常"]},"tr":{"name":"Ochoa sendromu","synonyms":["Ürofasiyal sendrom","Hidronefroz-ters gülümseme sendromu","Ters gülümseme-nörojenik mesane sendromu","İdrar anormallikleri ile seyreden kısmi fasiyal felç"]}},"xrefs":[{"source":"OMIM","code":"236730","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615112","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"443886910"},{"source":"MONDO","code":"0000463","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536480","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0403555","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"104","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089227","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":[147,156,188,233]}],"children":[],"genes":[{"symbol":"HPSE2","name":"heparanase 2 (inactive)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23967498[PMID]","hgnc":"18374","ensembl":"ENSG00000172987","omim":"613469","loci":["10q24.2"]},{"symbol":"LRIG2","name":"leucine rich repeats and immunoglobulin like domains 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23313374[PMID]_23967498[PMID]","hgnc":"20889","ensembl":"ENSG00000198799","omim":"608869","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000796","label":"Urethral obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}