{"orpha":141013,"name":"First branchial cleft anomaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["First branchial cleft cyst","First branchial cleft fistula"],"definition":"A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141013/","orphanet_url":"https://www.orpha.net/en/disease/detail/141013","names":{"fr":{"name":"Anomalie de la première fente branchiale","synonyms":["Fistule de la première fente branchiale","Kyste de la première fente branchiale"],"definition":"Malformation otorhinolaryngologique rare caractérisée par des infections récurrentes, un oedème, des douleurs, un écoulement et la formation d'abcès dans la zone de l'anomalie. L'anomalie résulte d'une fusion incomplète de la partie ventrale du premier et du deuxième arcs branchiaux, se présentant sous la forme d'une fistule, d'un sinus ou d'un kyste pouvant se former à tout endroit entre le conduit auditif externe et l'angle mandibulaire, y compris la glande parotide."},"de":{"name":"Kiemenbogen, 1., Anomalie des","definition":"Eine seltene otorhinolaryngeale Fehlbildung, die durch wiederkehrende Infektionen, Schwellungen, Schmerzen, Ausfluss und Abszessbildung im Defektbereich gekennzeichnet ist. Die Anomalie resultiert aus einer unvollständigen Verschmelzung des ventralen Teils des ersten und zweiten Branchialbogens und tritt entweder als Fistel, Sinus oder Zyste auf, die überall zwischen dem äußeren Gehörgang und dem Unterkieferwinkel, einschließlich der Ohrspeicheldrüse, vorkommen kann."},"es":{"name":"Anomalía de la primera hendidura branquial","synonyms":["Fístula de la primera hendidura branquial","Quiste de la primera hendidura branquial"],"definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por infecciones recurrentes, hinchazón, dolor, secreción y formación de abscesos en el área afectada. La anomalía se debe a la fusión incompleta de la parte ventral del primer y segundo arco branquial, que se presenta como una fístula, seno o quiste localizado entre el canal auditivo externo y el ángulo mandibular, incluida la glándula parótida."},"it":{"name":"Schisi del primo arco branchiale","definition":"È una malformazione rara di interesse otorinolaringoiatrico, caratterizzata da infezioni ricorrenti, tumefazione, dolore, perdite e ascessi nell'area in cui si localizza la malformazione. L'anomalia è causata dalla fusione incompleta della porzione ventrale del primo e del secondo arco branchiale; si manifesta sotto forma di fistola, seno o cisti che può localizzarsi in qualsiasi area compresa tra il canale uditivo esterno e l'angolo mandibolare, comprese le paratiroidi."},"nl":{"name":"Anomalie van eerste kieuwspleet","synonyms":["Fistel van eerste kieuwspleet","Cyste van eerste kieuwspleet"],"definition":"Een zeldzame otorinolaryngologische malformatie die gekarakteriseerd wordt door recurrente infecties, zwelling, pijn, afscheiding en vorming van abcessen in het getroffen gebied. De anomalie is het gevolg van onvolledige fusie van het ventrale deel van de eerste en tweede kieuwboog, en manifesteert zich als een fistel, sinus of cyste op eender welke plaats tussen de uitwendige gehoorgang en de mandibulaire hoek, inclusief de oorspeekselklier."},"pt":{"name":"Anomalia da primeira fenda branquial"},"pl":{"name":"Anomalia pierwszego łuku skrzelowego","synonyms":["Przetoka pierwszego łuku skrzelowego","Torbiel pierwszego łuku skrzelowego"]},"cs":{"name":"Anomálie první branchiální štěrbiny","synonyms":["Cysta první branchiální štěrbiny","Píštěl první branchiální štěrbiny"]},"uk":{"name":"Аномалія першої зябрової щілини","synonyms":["Перша гілкова щілинна кіста","Перша гілкова щілинна нориця"],"definition":"A rare otorhinolaryngological malformation characterized by recurrent infections, swelling, pain, discharge and abscess formation in the defect area. The anomaly results from incomplete fusion of the ventral part of the first and second branchial arch, presenting as either a fistula, sinus or cyst occurring anywhere between the external auditory canal and the mandibular angle, including parotid gland."},"zh":{"name":"第一鳃裂畸形","synonyms":["第一鳃裂瘘管"],"definition":"一种罕见的耳鼻咽喉畸形，其特征是在缺损部位反复感染、肿胀、疼痛、有分泌物和脓肿形成。由于第一和第二鳃弓腹侧部不完全融合所导致的异常，表现为瘘管、窦或囊肿，病变发生在外耳道和下颌角之间的任何地方，包括腮腺。"},"tr":{"name":"İlk brankial yarık anomalisi","synonyms":["Birinci branşiyal yarık kisti","Birinci branşiyal yarık fistülü"]}},"xrefs":[{"source":"ICD-10","code":"Q18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1956658224"},{"source":"MONDO","code":"0015376","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3874320","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19934","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}