{"orpha":107,"name":"BOR syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Branchiootorenal spectrum disorder","Branchiootorenal syndrome","Melnick-Fraser syndrome"],"definition":"A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-107/","orphanet_url":"https://www.orpha.net/en/disease/detail/107","names":{"fr":{"name":"Syndrome BOR","synonyms":["Maladie de spectre branchio-oto-rénal","Syndrome branchio otique","Syndrome branchio-oto-rénal","Syndrome de Melnick-Fraser"],"definition":"Syndrome de dysplasie otomandibulaire rare caractérisé par des anomalies des arcs branchiaux (kystes, fistules, fentes branchiales), des malformations de l'oreille associées à une déficience auditive (malformations de l'auricule avec sinus préauriculaires, déficience auditive neurosensorielle et de transmission) et des malformations rénales (malformation de l'appareil urinaire, hypoplasie ou agénésie des reins, dysplasie rénale et kystes rénaux)."},"de":{"name":"BOR-Syndrom","synonyms":["Branchio-oto-renales Syndrom","Branchiootorenale Spektrum-Störung","Melnick-Fraser-Syndrom"],"definition":"Ein seltenes otomandibuläres Fehlbildungs-Syndrom, das durch Anomalien des Branchialbogens (Branchialspalten, Fisteln, Zysten), Fehlbildungen des Ohrs, die mit Hörstörungen einhergehen (Fehlbildungen der Ohrmuschel mit präaurikulären Gruben, Schallleitungs- oder Schallempfindungsschwerhörigkeit), und Nierenfehlbildungen (Harnbaumfehlbildung, Nierenhypoplasie oder -agenesie, Nierendysplasie, Nierenzysten) gekennzeichnet ist."},"es":{"name":"Síndrome BOR","synonyms":["Síndrome branquio-oto-renal","Síndrome de Melnick-Fraser","Trastorno del espectro branquio-oto-renal"],"definition":"Es un síndrome poco frecuente de displasia otomandibular caracterizado por anomalías del arco branquial (hendiduras branquiales, fístulas, quistes), malformaciones del oído asociadas con deficiencia auditiva (malformaciones del pabellón auricular con hoyuelos preauriculares e hipoacusia conductiva o neurosensorial) y malformaciones renales (malformación del árbol urinario, hipoplasia o agenesia renal, displasia renal y quistes renales)."},"it":{"name":"Sindrome BOR","synonyms":["Malattia dello spettro branchio-oto-renale","Sindrome branchio-oto-renale","Sindrome di Melnick-Fraser"]},"nl":{"name":"BOR-syndroom","synonyms":["Branchio-otorenaal syndroom","Branchio-otorenale spectrumstoornis","Syndroom van Melnick-Fraser"],"definition":"Een zeldzaam syndroom van otomandibulaire dysplasie, gekenmerkt door kieuwbooganomalieën (branchiale spleten, fistels, cysten), oormalformaties geassocieerd met slechthorendheid (malformaties van oorschelp met preauriculaire fistels, conductief of sensorineuraal gehoorverlies), en niermalformaties (malformatie van urinewegen, hypoplasie of agenesie van nier, dysplasie van nier, niercysten)."},"pt":{"name":"Síndrome BOR","synonyms":["Doença do espectro clínico branquio-oto-renal","Síndrome Melnick-Fraser","Síndrome branquio-oto-renal"],"definition":"Síndrome rara de displasia otomandibular caracterizada por anomalias do arco branquial (fendas branquiais, fístulas, quistos), malformações do ouvido associadas a deficiência auditiva (malformações da orelha com fossetas pré-auriculares, deficiência auditiva condutiva ou neurossensorial) e malformações renais (malformação urinária em árvore, hipoplasia ou agenesia renal, displasia renal, quistos renais)."},"pl":{"name":"Zespół oskrzelowo-uszno-nerkowy","synonyms":["Zespół skrzelowo-uszno-nerkowy","Zespół BOR"]},"cs":{"name":"BOR syndrom","synonyms":["Branchiootorenální syndrom"]},"uk":{"name":"BOR-синдром","synonyms":["Порушення бранхіооторенального спектру","Бранхіооторенальний синдром","Синдром Мельника-Фрейзера"],"definition":"A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts)."},"zh":{"name":"BOR综合征","synonyms":["腮-耳-肾综合征"]},"tr":{"name":"BOR sendromu","synonyms":["Brankiyootorenal sendrom"]}},"xrefs":[{"source":"OMIM","code":"113650","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610896","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"504227287"},{"source":"MONDO","code":"0007029","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019280","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265234","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10147","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071135","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156202,"name":"Otomandibular dysplasia associated with monogenic syndromes","classifications":[147,156,199,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"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":"20301554[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":"20301554[PMID]","hgnc":"10887","ensembl":"ENSG00000126778","omim":"601205","loci":["14q23.1"]},{"symbol":"SIX5","name":"SIX homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301554[PMID]","hgnc":"10891","ensembl":"ENSG00000177045","omim":"600963","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Canada","status":"Validated","source":"7468659[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"7468659[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-17","source":"20301554[PMID]_33624842[PMID]_35434312[PMID]","terms":[{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011395","label":"Aplasia/Hypoplasia of the cochlea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009794","label":"Branchial anomaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009796","label":"Branchial cyst","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100272","label":"Branchial sinus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011388","label":"Enlarged cochlear aqueduct","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011387","label":"Enlarged vestibular aqueduct","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008586","label":"Hypoplasia of the cochlea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000394","label":"Lop ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011481","label":"Abnormal lacrimal duct morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100581","label":"Dilatation of renal calices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009798","label":"Euthyroid goiter","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:0100274","label":"Gustatory lacrimation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007925","label":"Lacrimal duct aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040106","label":"Morphological abnormality of the lateral semicircular canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}