{"orpha":857,"name":"Townes-Brocks syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Imperforate anus-hand, foot and ear anomalies syndrome","REAR syndrome","Renal-ear-anal-radial syndrome","Sensorineural deafness with imperforate anus and hypoplastic thumbs","Sensorineural hearing loss with imperforate anus and hypoplastic thumbs","TBS","Townes syndrome"],"definition":"A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-857/","orphanet_url":"https://www.orpha.net/en/disease/detail/857","names":{"fr":{"name":"Syndrome de Townes-Brocks","synonyms":["Syndrome REAR","TBS"],"definition":"Le syndrome de Townes-Brocks (TB) est une maladie génétique rare caractérisée par la triade : imperforation anale, oreilles dysplasiques souvent associées à une surdité neurosensorielle et/ou de conduction, et malformations des pouces. Ces manifestations sont souvent associées à d'autres signes principalement rénaux ou cardiaques."},"de":{"name":"Townes-Brocks-Syndrom","synonyms":["Analatresie mit Hand-, Fuß-und Ohranomalien","REAR-Syndrom","Sensorineurale Schwerhörigkeit mit Anus imperforatus und hypoplastischen Daumen","TBS","Townes-Syndrom"],"definition":"Eine seltene genetische Störung, die durch die Trias Analatresie, dysplastische Ohren, die häufig mit sensorineuraler und/oder konduktiver Hörminderung einhergehen, sowie Fehlbildungen am Daumen gekennzeichnet ist. Oft gehen mit diesen Merkmalen weitere Symptome einher, die vor allem die Nieren und das Herz betreffen."},"es":{"name":"Síndrome de Townes-Brocks","synonyms":["Ano imperforado con anomalías en manos, pies y orejas","Hipoacusia neurosensorial con ano imperforado y pulgares hipoplásicos","Sordera neurosensorial con ano imperforado y pulgares hipoplásicos","Síndrome REAR","Síndrome de Townes","Síndrome renal-oído-anal-radial","TBS"],"definition":"Es un trastorno genético poco frecuente caracterizado por la tríada de ano imperforado, pabellones auriculares displásicos que suelen estar asociados a una deficiencia auditiva neurosensorial y/o conductiva, y malformaciones del pulgar. Estos hallazgos se asocian con frecuencia a otros signos que afectan principalmente a los riñones y al corazón."},"it":{"name":"Sindrome di Townes-Brocks","synonyms":["Ano imperforato con anomalie delle mani, dei piedi e dell'orecchio","Sindrome REAR","Sindrome di Townes","Sindrome renale-orecchio-anale-radiale","Sordità neurosensoriale con ano imperforato e ipoplasia dei pollici","TBS"]},"nl":{"name":"Syndroom van Townes-Brocks","synonyms":["Anusatresie - hand-, voet- en ooranomalieën-syndroom","REAR-syndroom","Renaal-oor-anaal-radiaal syndroom","Sensorineurale doofheid met anusatresie en hypoplastische duimen","Syndroom van Townes","TBS"],"definition":"Een zeldzame, genetische aandoening gekarakteriseerd door de triade van anusatresie, dysplastische oren vaak geassocieerd met sensorineuraal en/of conductief gehoorverlies, en malformaties van de duimen. Deze kenmerken zijn vaak geassocieerd met andere tekenen, voornamelijk van nieren en hart."},"pt":{"name":"Síndrome Townes-Brocks"},"pl":{"name":"Zespół Townesa i Brocksa","synonyms":["Imperforate anus-hand, foot and ear anomalies syndrome","REAR syndrome","Renal-ear-anal-radial syndrome","Sensorineural deafness with imperforate anus and hypoplastic thumbs","Sensorineural hearing loss with imperforate anus and hypoplastic thumbs","TBS","Townes syndrome"]},"cs":{"name":"Townesův-Brocksův syndrom","synonyms":["Neperforovaný anus s anomáliemi rukou, nohou a uší","REAR syndrom","Senzorineurální hluchota s neperforovaným anem a hypoplastickými palci","TBS","Syndrom postihující ledviny, uši, anus a vřetenní kost","Townesův syndrom","Townes-Brocksův syndrom"]},"uk":{"name":"Синдром Таунса-Брокса","synonyms":["Синдром аномалій анального отвору-руки, ноги та вуха","Синдром REAR","Нирково-вушно-анально-променевий синдром","Сенсоневральна глухота з імперфорацією ануса та гіпопластичними великими пальцями","Сенсоневральна приглухуватість з імперфорацією ануса та гіпопластичними великими пальцями","TBS","Синдром Таунса"],"definition":"A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart."},"zh":{"name":"汤-布综合征","synonyms":["感音神经性听力丧失伴肛门闭锁及拇指发育不全"]},"tr":{"name":"Townes-Brocks sendromu","synonyms":["TBS","REAR sendromu","Townes sendromu","Böbrek-kulak-anal-radyal sendrom","Deliksiz anüs-el, ayak ve kulak anomalileri sendromu","Deliksiz anüs ve hipoplastik baş parmaklar ile seyreden sensörinöral sağırlık","Deliksiz anüs ve hipoplastik başparmak ile seyreden sensörinöral işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"107480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617466","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":"66554749"},{"source":"MONDO","code":"0007142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536974","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265246","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7784","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]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"SALL1","name":"spalt like transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301618[PMID]","hgnc":"10524","ensembl":"ENSG00000103449","omim":"602218","loci":["16q12.1"]},{"symbol":"DACT1","name":"dishevelled binding antagonist of beta catenin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28054444[PMID]","hgnc":"17748","ensembl":"ENSG00000165617","omim":"607861","loci":["14q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.42,"area":"Spain","status":"Validated","source":"10083645[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004792","label":"Rectoperineal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009912","label":"Abnormal tragus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010760","label":"Absent toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010331","label":"Aplasia/Hypoplasia of the 3rd toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001140","label":"Limbal dermoid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009944","label":"Partial duplication of thumb phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010481","label":"Urethral valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}