{"orpha":529574,"name":"Duane retraction syndrome with congenital deafness","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["DRS with deafness","DRS with hearing loss","DURS with deafness","DURS with hearing loss","Duane retraction syndrome with congenital hearing loss"],"definition":"A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529574/","orphanet_url":"https://www.orpha.net/en/disease/detail/529574","names":{"fr":{"name":"Syndrome de Duane avec surdité congénitale","synonyms":["DRS avec surdité"],"definition":"Maladie neurologique rare, caractérisée par la présence du syndrome de rétraction de Duane (c'est-à-dire un trouble congénital de la dysinnervation des nerfs crâniens avec une limitation unilatérale ou bilatérale de l'abduction et/ou de l'adduction de l'oeil, ainsi qu'une rétraction du globe et un rétrécissement de la fente palpébrale lors d'une tentative d'adduction) en combinaison avec une perte auditive congénitale unilatérale ou bilatérale. Le caractère latéral de la perte auditive correspond au caractère latéral du syndrome de rétraction."},"de":{"name":"Duane-Retraktionssyndrom mit kongenitaler Schwerhörigkeit","synonyms":["DRS mit Schwerhörigkeit","DURS mit Schwerhörigkeit"],"definition":"Eine seltene neurologische Erkrankung, die durch das Vorliegen eines Duane Retraktionssyndroms (d. h. einer kongenitalen kranialen Dysinnervation mit ein- oder beidseitiger Einschränkung der Abduktion und/oder Adduktion des Auges sowie Retraktion des Augapfels und Verengung der Lidspalte bei Adduktionsversuch) in Kombination mit einer kongenitalen ein- oder beidseitigen Taubheit gekennzeichnet ist. Die Einseitigkeit der Schwerhörigkeit entspricht der Einseitigkeit des Retraktionssyndroms."},"es":{"name":"Síndrome de retracción de Duane con sordera congénita","synonyms":["DRS con hipoacusia","DRS con sordera","DURS con hipoacusia","DURS con sordera","Síndrome de retracción de Duane con hipoacusia congénita"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por la presencia del síndrome de retracción de Duane (es decir, un trastorno de denervación craneal congénito con limitación uni- o bilateral de la abducción y/o aducción del ojo, así como retracción del globo ocular y estrechamiento de la fisura palpebral en el intento de aducción) en combinación con hipoacusia congénita uni- o bilateral. Se da una correspondencia entre la lateralidad de la hipoacusia y la del síndrome de retracción."},"it":{"name":"Sindrome della retrazione di Duane con sordità congenita","definition":"Si tratta di una malattia neurologica rara, caratterizzata dalla sindrome della retrazione di Duane (una malattia congenita da dis-innervazione cranica con limitazione mono- o bilaterale dell'abduzione e/o dell'adduzione dell'occhio, associata alla retrazione del globo e al restringimento delle rime palpebrali in adduzione) e dalla sordità congenita mono- o bilaterale. La sordità e la sindrome della retrazione interessano lo stesso lato."},"nl":{"name":"Duane-retractiesyndroom met congenitale doofheid","synonyms":["DRS met doofheid","DURS met doofheid"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door aanwezigheid van Duane-retractiesyndroom (i.e. een congenitale craniale denervatiestoornis met unilaterale of bilaterale beperking van abductie en/of adductie van oog, alsook retractie van oogbol en vernauwing van ooglidspleet bij poging tot adductie) in combinatie met congenitaal uni- of bilateraal gehoorverlies. De zijde(n) getroffen door gehoorverlies komt overeen met de zijde(n) getroffen door retractiesyndroom."},"pt":{"name":"Síndrome de retracção Duane com surdez congénita"},"pl":{"name":"Zespół retrakcyjny Duane'a z wrodzonym niedosłuchem","synonyms":["Zespół retrakcji Duane'a z wrodzoną utratą słuchu"]},"cs":{"name":"Duaneův retrakční syndrom s vrozenou hluchotou","synonyms":["DRS s hluchotou","DURS s hluchotou"]},"uk":{"name":"Синдром ретракції Дуана з вродженою глухотою","synonyms":["DRS з глухотою","DRS зі зниженим слухом","Синдром ретракції Дуана з вродженою втратою слуху","DURS з глухотою","DURS зі зниженим слухом"],"definition":"A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome."},"zh":{"name":"Duane眼球后退综合征伴先天性耳聋","synonyms":["Duane眼球后退综合征伴先天性听力损失"],"definition":"一种罕见的神经系统疾病，其特点是存在Duane眼球后退综合征（即先天性颅神经异常支配，伴单侧或双侧眼球外展和（或）内收受限，以及眼球后退和试图内收时睑裂变窄），同时伴有先天性单侧或双侧听力损失。听力损失的一侧与后退综合征的那一侧相同。"},"tr":{"name":"Doğumsal sağırlık ile seyreden Duane retraksiyon sendromu","synonyms":["Sağırlık ile seyreden DRS","Sağırlık ile seyreden DURS","İşitme kaybı ile seyreden DRS","İşitme kaybı ile seyreden DURS","Doğumsal işitme kaybı ile seyreden Duane retraksiyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"617041","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H50.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C82.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035337","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680193","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"MAFB","name":"MAF bZIP transcription factor B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27181683[PMID]","hgnc":"6408","ensembl":"ENSG00000204103","omim":"608968","loci":["20q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27181683[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27181683[PMID]"}],"phenotypes":null}