{"orpha":50815,"name":"Branchiogenic deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Branchiogenic hearing loss syndrome","Mégarbané-Loiselet syndrome"],"definition":"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and urethral abnormalities are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50815/","orphanet_url":"https://www.orpha.net/en/disease/detail/50815","names":{"fr":{"name":"Surdité branchiogénique","synonyms":["Syndrome de Mégarbané-Loiselet"],"definition":"Syndrome d'anomalies congénitales multiples, décrit à ce jour dans une seule famille, caractérisé par des kystes ou des fistules branchiales, des malformations de l'oreille, une surdité congénitale (de transmission, de perception et mixte), une hypoplasie du conduit auditif interne, un strabisme, un trismus, des anomalies des cinquièmes doigts, des lésions de vitiligo, une petite taille et de légers troubles de l'apprentissage. Aucune anomalie des reins et des uretères n'a été constatée."},"de":{"name":"Branchiogene Schwerhörigkeit-Syndrom","synonyms":["Mégarbané-Loiselet-Syndrom"],"definition":"Das Megarbané-Loiselet-Syndrom ist ein multiples angeborenes Anomaliensyndrom, das bisher in einer Familie beschrieben wurde und durch verzweigte Zysten oder Fisteln, Ohrmissbildungen, angeborenen Hörverlust (leitfähig, sensorineural und gemischt), innere Gehörgangshypoplasie, Schielen, Trismus, abnormale fünfte Finger, vitiliginöse Läsionen, Kleinwuchs und leichte Lernbehinderung gekennzeichnet ist. Nieren- und Harnröhrenanomalien sind nicht vorhanden."},"es":{"name":"Síndrome de sordera branquiogénica","synonyms":["Síndrome de Mégarbané-Loiselet","Síndrome de hipoacusia branquiogénica"],"definition":"El síndrome de sordera branquiogénica es un síndrome de anomalías congénitas múltiples, descrito en una sola familia hasta la fecha y caracterizado por la presencia de quistes branquiales o fístulas; malformaciones en las orejas; pérdida auditiva congénita (conductiva, neurosensorial y mixta); hipoplasia del canal auditivo interno; estrabismo; trismus; quintos dedos de manos anómalos; lesiones en piel tipo vitíligo (hipopigmentadas, blanquecinas), baja estatura; y leve discapacidad en el aprendizaje. No se presentan anomalías renales ni uretrales."},"it":{"name":"Sindrome da sordità branchiogena","synonyms":["Sindrome di Mégarbané-Loiselet"],"definition":"La sordità branchiogenica è una sindrome da anomalie congenite multiple, descritta fino ad oggi solo in una famiglia. E' caratterizzata da cisti branchiali o fistole, malformazioni dell'orecchio, sordità congenita (conduttiva, neurosensoriale e mista), ipoplasia del canale uditivo interno, strabismo, trisma, anomalie del quinto dito, lesioni vitiliginose, bassa statura e lieve difficoltà di apprendimento. Non sono state riscontrate anomalie dei reni e degli ureteri."},"nl":{"name":"Branchiogene doofheid-syndroom","synonyms":["Branchiogeen gehoorverlies-syndroom","Syndroom van Mégarbané-Loiselet"],"definition":"Branchiogene doofheidsyndroom is een syndroom met multipele congenitale anomalieën dat tot op heden werd beschreven in één familie, en dat gekarakteriseerd wordt door branchiale cysten of fistels, oormalformaties, congenitaal gehoorverlies (conductief, sensorineuraal en gemengd), hypoplasie van de inwendige gehoorgang, strabisme, trismus (kaakklem), abnormale vijfde vingers, vitiligo-achtige laesies, kleine gestalte, en milde leerbeperking. Renale en urethrale afwijkingen zijn afwezig."},"pt":{"name":"Síndrome surdez branquiogénica","synonyms":["Síndrome Megarbane-Loiselet"]},"pl":{"name":"Zespół głuchoty skrzelopochodnej","synonyms":["Zespół Mégarbané i Loiselet"]},"cs":{"name":"Syndrom branchiogenní hluchoty","synonyms":["Mégarbanéův-Loiseletův syndrom","Mégarbané-Loiseletův syndrom"]},"uk":{"name":"Синдром бранхіогенної глухоти","synonyms":["Синдром бранхіогенної приглухуватості","Синдром Мегарбане-Луазеле"],"definition":"Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent."},"zh":{"name":"鳃源性耳聋综合征","synonyms":["鳃源性听力丧失综合症"]},"tr":{"name":"Branchiogenic sağırlık sendromu","synonyms":["Mégarbané-Loiselet sendromu","Branchiogenic işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"609166","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012209","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836673","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"12833414[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12833414[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12833414[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008774","label":"Aplasia/Hypoplasia of the inner ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009796","label":"Branchial cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009795","label":"Branchial fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009839","label":"Osteolytic defects of the distal phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011272","label":"Underdeveloped tragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007427","label":"Reticulated skin pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null}]}}