{"orpha":2695,"name":"Bifid nose","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2695/","orphanet_url":"https://www.orpha.net/en/disease/detail/2695","names":{"fr":{"name":"Nez bifide","definition":"Anomalie congénitale rare du nez et du cavum caractérisée par une fente nasale allant d'un sillon à peine visible dans la columelle à une fente complète dans les os et les cartilages sous-jacents (divisant le nez en deux moitiés) et par des voies respiratoires généralement adéquates. Un nez bifide peut s'observer en cas de dysplasie frontonasale ; d'autres malformations telles qu'un hypertélorisme et une fente labiale médiane peuvent être associées."},"de":{"name":"Nase, bifide","definition":"Eine seltene angeborene Anomalie der Nase und des Nasenraums, die durch eine Spaltung der Nase gekennzeichnet ist, die von einer minimal wahrnehmbaren Furche in der Columella bis zu einer vollständigen Spaltung der darunter liegenden Knochen und Knorpel (was zu zwei Nasenhälften führt) reicht, wobei die Atemwege in der Regel ausreichend durchgängig sind. Eine gespaltene Nase kann bei frontonasaler Dysplasie auftreten; andere Fehlbildungen wie Hypertelorismus und Mittellinienspalten der Lippe können ebenfalls damit einhergehen."},"es":{"name":"Nariz bífida","definition":"Es una malformación congénita poco frecuente de la nariz y del cavum caracterizada por hendiduras nasales que varían desde un surco mínimamente perceptible en la columela, hasta una hendidura completa de los huesos y cartílago subyacentes (dando lugar a ''dos medias narices'') con una vía respiratoria, por lo general, adecuada. Se observa nariz bífida en la displasia frontonasal, pudiendo asociar otras malformaciones, tales como hiperteleorbitismo y hendiduras de la línea media del labio."},"it":{"name":"Naso bifido","definition":"Il naso bifido è una malformazione congenita rara, probabilmente a trasmissione autosomica dominante o recessiva, caratterizzata dalla schisi del naso, che può estrinsecarsi come un piccolo solco appena apprezzabile a livello della columella fino alla schisi completa delle ossa e della cartilagine sottostante (che esita nella formazione di due mezzi nasi), con vie aeree normali. Il naso bifido può essere presente anche nella displasia frontonasale. Possono associarsi altre malformazioni, come l'iperteleorbitismo e le schisi mediane del labbro."},"nl":{"name":"Bifide neus","definition":"Een zeldzame congenitale anomalie van neus en neusholte, gekenmerkt door gespleten neus, gaande van een minimaal merkbare groef in columella tot volledige splijting van onderliggende botten en kraakbeen (met twee halve neuzen als resultaat) met een doorgaans toereikende luchtweg. Bifide neus kan waargenomen worden bij frontonasale dysplasie; andere malformaties zoals orbitaal hypertelorisme en gespleten lip langs de middellijn kunnen ook geassocieerd zijn."},"pt":{"name":"Nariz bífido"},"pl":{"name":"Rozszczep nosa","definition":"Rzadka wrodzona wada nosa i jamy ustnej charakteryzująca się rozszczepem nosa od minimalnie zauważalnego rowka w kolumience do całkowitego rozszczepu leżących niżej położonych kości i chrząstki (w wyniku czego powstają dwie połowy nosa) przy zazwyczaj prawidłowej drożności dróg oddechowych. W dysplazji czołowo-nosowej można zaobserwować rozdwojony nos; mogą wystąpić także inne wady rozwojowe, takie jak hipertelorbityzm i rozszczep wargi w linii pośrodkowej."},"cs":{"name":"Rozštěp nosu"},"uk":{"name":"Роздвоєний ніс","definition":"A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated."},"zh":{"name":"鼻正中裂"},"tr":{"name":"Bifid burun"}},"xrefs":[{"source":"OMIM","code":"109740","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"210400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q30.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA70.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1824850646"},{"source":"MONDO","code":"0000110","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221363","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"884","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":141234,"name":"Median facial cleft","classifications":[147,209]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null}]}}