{"orpha":500188,"name":"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500188/","orphanet_url":"https://www.orpha.net/en/disease/detail/500188","names":{"fr":{"name":"Syndrome lié à l'X d'atrésie du conduit auditif externe-dilatation du canal auditif interne-dysmorphie faciale","definition":"Surdité génétique syndromique rare caractérisée par une perte auditive congénitale, une atrésie ou une sténose du conduit auditif externe, un conduit auditif interne dilaté, une malformation de l'oreille interne (séparation incomplète du tour basal de la cochlée du fond du conduit auditif interne), associée à une malformation de l'oreille et une dysmorphie faciale (notamment des sourcils épais, un ptosis, une racine nasale large et un télécanthus). L'intelligence n'est pas affectée et le développement est généralement normal."},"de":{"name":"X-chromosomale äußere Gehörgangatresie-dilatierter innerer Gehörgang-Gesichtsdysmorphie-Syndrom","definition":"Ein seltenes genetisches Dysmorphie-Syndrom, das durch eine angeborene Schwerhörigkeit, eine Atresie oder Stenose des äußeren Gehörgangs, einen erweiterten inneren Gehörgang und eine Fehlbildung des Innenohrs (unvollständige Trennung der Basalwindung der Cochlea vom Fundus des inneren Gehörgangs) in Kombination mit einer abnormen Ohrform und Gesichtsdysmorphien (einschließlich dicker Augenbrauen, Ptosis, breiter Nasenwurzel und Telekanthus) gekennzeichnet ist. Die Intelligenz ist normal und eine Entwicklungsverzögerung liegt nicht vor."},"es":{"name":"Síndrome de atresia del canal auditivo externo-canal auditivo interno dilatado-dismorfia facial ligado al cromosoma X","definition":"Es una hipoacusia sindrómica de base genética y poco frecuente, caracterizada por pérdida auditiva congénita, atresia o estenosis del conducto auditivo externo, dilatación del conducto auditivo interno, malformación del oído interno (partición incompleta de la espira basal de la cóclea del fondo del conducto auditivo interno), acompañado de anomalías del pabellón auricular y dismorfia facial (incluyendo cejas gruesas, ptosis, raíz nasal amplia y telecanto). La capacidad intelectual es normal y no se ha descrito retraso del desarrollo psicomotor."},"it":{"name":"Sindrome atresia del canale uditivo esterno - dilatazione del canale uditivo interno - dismorfismi facciali legata all'X","definition":"Si tratta di una sordità genetica sindromica rara, caratterizzata da sordità congenita, atresia o stenosi del canale uditivo esterno, dilatazione del canale uditivo interno e malformazione dell'orecchio interno (separazione incompleta del giro cocleare basale dal fondo del canale uditivo interno), associati ad anomalie morfologiche dell'orecchio e dismorfismi facciali (sopracciglia folte, ptosi, radice del naso larga e telecanto). L'intelligenza è normale e i pazienti non presentano ritardo dello sviluppo."},"nl":{"name":"X-gebonden atresie van uitwendige gehoorgang - wijde inwendige gehoorgang - faciale dysmorfie-syndroom","definition":"Een zeldzame, genetische syndromale doofheid, gekarakteriseerd door congenitaal gehoorverlies, atresie of stenose van uitwendige gehoorgang, dilatatie van inwendige gehoorgang, malformatie van binnenoor (onvolledige scheiding van basale winding van cochlea en fundus van inwendige gehoorgang), in combinatie met abnormale vorm van oor en faciale dysmorfie (met onder meer dikke wenkbrauwen, ptose, brede neuswortel, en telecanthus). Intelligentie is normaal en ontwikkelingsachterstand is afwezig."},"pt":{"name":"Síndrome de atresia do canal auditivo externo-canal auditivo interno dilatado-dismorfia facial ligado ao X"},"pl":{"name":"Zespół atrezji zewnętrznego przewodu słuchowego, poszerzonego wewnętrznego przewodu słuchowego oraz dysmorfii twarzy sprzężony z chromosome X"},"cs":{"name":"X-vázaný syndrom zahrnující atrézii zevního zvukovodu, dilataci vnitřního zvukovodu a faciální dysmorfismus"},"uk":{"name":"Х-зчеплений синдром атрезії зовнішнього слухового проходу-розширеного внутрішнього слухового проходу-дисморфізму обличчя","definition":"A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent."},"zh":{"name":"X连锁外耳道闭锁-扩张型内耳道-面部畸形综合征"},"tr":{"name":"X'e bağlı eksternal işitsel kanal atrezisi ile genişlemiş iç işitsel kanal-fasyal dismorfizm sendromu"}},"xrefs":[{"source":"OMIM","code":"301018","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H91.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0044702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567226","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":156243,"name":"Pinnae and external auditory canal anomaly","classifications":[147,156,200]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"GPRASP2","name":"G protein-coupled receptor associated sorting protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28096187[PMID]","hgnc":"25169","ensembl":"ENSG00000158301","omim":"300969","loci":["Xq22.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"28096187[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28096187[PMID]"}],"phenotypes":null}