{"orpha":141091,"name":"Polyrrhinia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Double nose","Polyrhinia"],"definition":"A rare, major congenital malformation characterized by complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141091/","orphanet_url":"https://www.orpha.net/en/disease/detail/141091","names":{"fr":{"name":"Polyrhinie","synonyms":["Nez double"],"definition":"Malformation congénitale importante et rare caractérisée par une duplication complète du nez, donnant lieu à deux nez complètement développés, souvent associée à une atrésie choanale, provoquant une détresse respiratoire et nécessitant une réparation chirurgicale."},"de":{"name":"Polyrhinie","synonyms":["Duplikation der Nase"]},"es":{"name":"Polirrinia","synonyms":["Nariz doble"],"definition":"Es una malformación congénita grave y muy poco frecuente caracterizada por la duplicación completa de la nariz, resultando en la presencia de dos narices completamente desarrolladas, a menudo asociadas con atresia de coanas, que provoca dificultad respiratoria y requiere intervención quirúrgica."},"it":{"name":"Polirinia","synonyms":["Doppio naso"],"definition":"La polirinia è una malformazione congenita molto rara e grave, caratterizzata dalla duplicazione completa del naso, che si manifesta con due nasi completamente sviluppati; spesso in associazione all'atresia delle coane, con distress respiratorio secondario, che richiede la correzione chirurgica."},"nl":{"name":"Polyrhinie","synonyms":["Dubbele neus"],"definition":"Polyrhinie is een uiterst zeldzame, grote congenitale malformatie die gekarakteriseerd wordt door volledige duplicatie van de neus met twee volledig ontwikkelde neuzen tot gevolg, vaak geassocieerd met choane atresie die leidt tot ademnood en chirurgisch herstel vereist."},"pt":{"name":"Polirrinia","definition":"A polirrinia é uma malformação congénita caracterizada por duplicação completa do nariz."},"pl":{"name":"Podwójny nos","synonyms":["Duplikacja nosa"]},"cs":{"name":"Polyrhinie","synonyms":["Dvojitý nos"]},"uk":{"name":"Поліринія","synonyms":["Подвійний ніс","Полірихія"],"definition":"A rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair."},"zh":{"name":"多发性鼻炎","synonyms":["双鼻"],"definition":"双鼻症是一种极为罕见的先天性严重畸形，其特征是鼻子完全重复，导致两个鼻子发育完全，常伴鼻后孔闭锁，引起呼吸窘迫，且需要手术修复。"},"tr":{"name":"Poliniri","synonyms":["Polirinya","Çift burun"]}},"xrefs":[{"source":"ICD-10","code":"Q30.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"142812177"},{"source":"MONDO","code":"0015388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274730","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19945","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"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":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-16","source":"29184738[PMID]_9725533[PMID]","terms":[{"hpo":"HP:0010938","label":"Abnormal external nose morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010939","label":"Abnormal nasal bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009934","label":"Supernumerary naris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010951","label":"Abnormal third ventricle morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002056","label":"Abnormality of the glabella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002693","label":"Abnormality of the skull base","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null}]}}