{"orpha":52429,"name":"Branchiootic syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52429/","orphanet_url":"https://www.orpha.net/en/disease/detail/52429","names":{"fr":{"name":"Syndrome branchio-otique","definition":"Un syndrome génétique d'anomalies congénitales multiples, rare, caractérisé par des anomalies du deuxième arc branchial (fistules et kystes branchiaux), des malformations de l'oreille externe, moyenne et interne associées à une surdité neurosensorielle, de conduction et mixte, en absence d'anomalies rénales. Les signes auriculaires typiques sont une malformation des auricules (oreilles tombantes ou en forme de coupe), la présence de sinus et/ou d'appendices pré-auriculaires, et une dysplasie de l'oreille moyenne et/ou interne (incluant une hypoplasie cochléaire, vestibulaire et des canaux semi-circulaires, une malformation des osselets et de l'espace de l'oreille moyenne)."},"de":{"name":"Branchiootisches Syndrom","definition":"Das Branchiootische Syndrom ist ein seltenes, genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien, das durch Anomalien des zweiten Kiemenbogens (Branchialzysten und -fisteln), Fehlbildungen des Außen-, Mittel- und Innenohrs in Verbindung mit Schallempfindungs-, Misch- oder Schallleitungsschwerhörigkeit gekennzeichnet ist und bei dem Nierenanomalien fehlen. Typische Ohrbefunde bestehen aus fehlgebildeten Ohrmuscheln (z. B. Schopf- oder Kuppelohren), präaurikulären Gruben und/oder Anhängseln sowie Mittel- und/oder Innenohrdysplasien (einschließlich Cochlea-, Vestibular- und Bogengangshypoplasie, Fehlbildung der Gehörknöchelchen und des Mittelohrraums)."},"es":{"name":"Síndrome branquio-ótico","definition":"El síndrome branquio-ótico es un síndrome genético de múltiples anomalías congénitas, poco frecuente, que se caracteriza por anomalías del segundo arco branquial (quistes y fístulas branquiales), malformaciones del oído externo, medio e interno asociadas a pérdida auditiva conductiva, neurosensorial o mixta y ausencia de anomalías renales. Los hallazgos típicos del oído consisten en aurículas malformadas (p. ej., orejas caídas o ahuecadas), fosas y/o papilomas preauriculares, y displasias del oído medio y/o interno (que incluyen hipoplasia de los canales coclear, vestibular y semicircular, malformación de los osículos y del oído medio)."},"it":{"name":"Sindrome brachio - auricolare","definition":"La sindrome branchio-auricolare è una malattia genetica rara da anomalie congenite multiple, caratterizzata da difetti del secondo arco branchiale (cisti e fistole branchiali) e malformazioni dell'orecchio esterno, medio ed interno, associate a sordità neurosensoriale, mista o di conduzione, in assenza di anomalie renali. I segni clinici caratteristici a livello dell'orecchio sono le malformazioni del padiglione auricolare (orecchie cascanti o a coppa), le fossette e/o appendici preauricolari e la displasia dell'orecchio medio e/o interno (ipoplasia cocleare, vestibolare e del canale semicircolare, malformazione degli ossicini e dell'orecchio medio)."},"nl":{"name":"Branchio-otisch syndroom","definition":"Branchio-otisch syndroom is een zeldzaam, genetisch syndroom met multipele congenitale anomalieën en wordt gekarakteriseerd door anomalieën van de tweede branchiale boog (branchiale cysten en fistels), malformaties van het buiten-, midden- en binnenoor geassocieerd met sensorineuraal, gemengd of conductief gehoorverlies, en de afwezigheid van nierafwijkingen. Typische bevindingen aan het oor zijn misvormde oorschelpen (e.g. hangende of komvormige oren), pre-auriculaire fistels en/of aanhangsels, en dysplasie van midden- en/of binnenoor (waaronder hypoplasie van het cochleair, vestibulair en semicirculair kanaal, malformatie van de gehoorbeentjes en de middenoorruimte)."},"pt":{"name":"Síndrome branquio-ótico"},"pl":{"name":"Zespół skrzelowo-uszny"},"cs":{"name":"Branchiootický syndrom"},"uk":{"name":"Бранхіоотичний синдром","definition":"Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space)."},"zh":{"name":"鳃耳综合征"},"tr":{"name":"Brankiootik sendrom"}},"xrefs":[{"source":"OMIM","code":"120502","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602588","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"608389","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"116011155"},{"source":"MONDO","code":"0018878","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537104","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273131","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"EYA1","name":"EYA transcriptional coactivator and phosphatase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9359046[PMID]_23840632[PMID]","hgnc":"3519","ensembl":"ENSG00000104313","omim":"601653","loci":["8q13.3"]},{"symbol":"SIX1","name":"SIX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15141091[PMID]","hgnc":"10887","ensembl":"ENSG00000126778","omim":"601205","loci":["14q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24698626[PMID]_23840632[PMID]","terms":[{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009795","label":"Branchial fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008609","label":"Morphological abnormality of the middle ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000614","label":"Abnormal nasolacrimal system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100267","label":"Lip pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null}]}}