{"orpha":141064,"name":"Isolated lower lip fistula","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated lower lip pits","Non-syndromic familial congenital lower lip pits"],"definition":"A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141064/","orphanet_url":"https://www.orpha.net/en/disease/detail/141064","names":{"fr":{"name":"Fistule de la lèvre inférieure isolé","synonyms":["Fistule labiale inférieure"],"definition":"Malformation othorinolaryngologique rare caractérisée par des fistules congénitales de la lèvre inférieure, généralement bilatérales et paramédianes, symétriques ou asymétriques et délimitées par la muqueuse labiale. La malformation est habituellement asymptomatique, bien qu'elle puisse entraîner, en raison de la communication avec les glandes salivaires accessoires, une sécrétion de salive via l'orifice formé par la fistule. Des infections peuvent également être observées."},"de":{"name":"Unterlippenfistel, isolierte","synonyms":["Isolierte Unterlippengrübchen","Nicht-syndromale familiäre angeborene Unterlippengrübchen"],"definition":"Eine seltene otorhinolaryngologische Fehlbildung, die durch angeborene, typischerweise bilaterale und paramediane, symmetrische oder asymmetrische Fisteln in der Unterlippe gekennzeichnet ist, die von Labialschleimhaut ausgekleidet sind. Die Fehlbildung ist in der Regel asymptomatisch, obwohl sie mit akzessorischen Speicheldrüsen kommunizieren kann und dann zu Speichelsekretion aus der Öffnung führt. Auch Infektionen können auftreten."},"es":{"name":"Fístula aislada del labio inferior","synonyms":["Fosa labial inferior aislada","Fosas labiales inferiores congénitas familiares no sindrómicas"],"definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por fístulas congénitas, típicamente bilaterales y paramedianas, simétricas o asimétricas, en el labio inferior, y que están revestidas de mucosa labial. La malformación suele ser asintomática, aunque puede comunicarse con las glándulas salivales accesorias y dar lugar a la secreción de saliva por la abertura. También pueden producirse infecciones."},"it":{"name":"Fistola del labbro inferiore isolata","synonyms":["Fossette congenite familiari non sindromiche del labbro inferiore","Fossette isolate del labbro inferiore"],"definition":"Si tratta di una malformazione rara di interesse otorinolaringoiatrico, caratterizzata da fistole congenite, di solito bilaterali e paramediane, simmetriche o asimmetriche, localizzate sul labbro inferiore e rivestite da mucosa labiale. In genere la malformazione è asintomatica, ma può comunicare con le ghiandole salivari accessorie, con la conseguente secrezione di saliva dall'apertura. Può associarsi a infezioni."},"nl":{"name":"Geïsoleerde fistel van onderlip","synonyms":["Geïsoleerde onderlipfistel","Geïsoleerde putjes in onderlip","Niet-syndromale familiale congenitale putjes in onderlip"],"definition":"Een zeldzame otorinolaryngologische malformatie, gekenmerkt door congenitale, doorgaans bilaterale en paramediane, symmetrische of asymmetrische fistels in onderlip, die zijn bekleed met lipslijmvlies. De malformatie is meestal asymptomatisch, maar communicatie met accessoire speekselklieren is mogelijk, wat resulteert in secretie van speeksel uit de opening. Infecties kunnen ook voorkomen."},"pt":{"name":"Fístula do lábio inferior"},"pl":{"name":"Izolowana przetoka dolnej wargi","synonyms":["Isolated lower lip pits","Non-syndromic familial congenital lower lip pits"]},"cs":{"name":"Píštěl spodního rtu","synonyms":["Isolated lower lip pits","Non-syndromic familial congenital lower lip pits"]},"uk":{"name":"Свищ нижньої губи","definition":"A rare otorhinolaryngological malformation characterized by congenital, typically bilateral and paramedian, symmetric or asymmetric fistulae in the lower lip, which are lined by labial mucosa. The malformation is usually asymptomatic, although it may communicate with accessory salivary glands and then result in secretion of saliva from the opening. Infections may also occur."},"zh":{"name":"下唇瘘管"},"tr":{"name":"Alt dudak fistülü"}},"xrefs":[{"source":"ICD-10","code":"Q38.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"230523092"},{"source":"MONDO","code":"0015382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274792","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":155835,"name":"Cysts and fistulae of the face and oral cavity","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}