{"orpha":83463,"name":"Microtia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83463/","orphanet_url":"https://www.orpha.net/en/disease/detail/83463","names":{"fr":{"name":"Microtie","definition":"La microtie est une malformation congénitale de l'oreille externe, observée le plus souvent chez les patients masculins, et qui survient de manière sporadique ou héréditaire. Elle se caractérise par la présence unilatérale (79-93% des cas, dont 60% impliquant l'oreille droite) ou bilatérale de petites oreilles anormalement ourlées, et est souvent associée à une atrésie ou une sténose du canal auriculaire, à des troubles du déficit de l'attention et à un retard de l'acquisition du langage. La taille des oreilles externes varie du stade I, où l'oreille est simplement plus petite que la normale, au stade IV, aussi connu sous le nom d'anotie, caractérisé par une absence complète de l'oreille externe et du conduit auditif."},"de":{"name":"Mikrotie","definition":"Die Mikrotie ist eine angeborene Fehlbildung des äußeren Ohres. Sie tritt sporadisch oder vererbt und häufiger im männlichen Geschlecht auf. Die Ohrmuscheln sind klein und abnorm geformt (79-93 % der Fälle sind einseitig, von diesen 60 % rechtsseitig). Diese Fehlbildung ist oft assoziiert mit einer Stenose oder Atresie des äußeren Gehörgangs, mit Aufmerksamkeitsstörungen und verzögerter Sprachentwicklung. Die Variabilität der Ohrmuschelgröße reicht vom Grad I (die Ohrmuschel ist nur kleiner als normal) bis zu Grad IV, der Anotie (siehe dort), dem vollständigen Fehlen des äußeren Ohres und des Gehörganges."},"es":{"name":"Microtia","definition":"Es una malformación congénita del oído externo, visto más frecuentemente en varones, que se produce esporádicamente o es heredado, que se caracteriza por aurículas pequeñas y de forma anormal unilaterales (79-93% de los casos, 60% de los cuales afecta a la oreja derecha) o bilaterales, y que a menudo se asocia con atresia o estenosis del conducto auditivo, trastornos de déficit de atención y retraso en el desarrollo del lenguaje. La variación del tamaño de la aurícula oscila desde el grado I, donde la aurícula es ligeramente más pequeña de lo normal, al grado IV, también conocido como anotia, donde hay una ausencia completa del oído externo y del conducto auditivo."},"it":{"name":"Microtia","definition":"La microtia è un difetto congenito dell'orecchio esterno, descritto più frequentemente nei maschi. Può essere sporadica o ereditaria e si caratterizza per la presenza di padiglioni piccoli di forma anomala, monolateralmente o bilateralmente, spesso associati ad atresia o stenosi del condotto uditivo, deficit dell'attenzione e ritardo nel linguaggio. Le dimensioni dei padiglioni variano dal grado I, in cui il padiglione è solo più piccolo del normale, al grado IV, definito anche anotia (si veda questo termine), in cui manca completamente l'orecchio esterno e il condotto uditivo."},"nl":{"name":"Microtie","definition":"Een congenitale malformatie van het uitwendige oor, die frequenter wordt waargenomen bij mannen, die sporadisch voorkomt of overgeërfd wordt, die gekarakteriseerd wordt door unilateraal (79-93% van de gevallen, waarvan 60% met betrokkenheid van het rechteroor) of bilateraal kleine en abnormaal gevormde oorschelpen, en die vaak geassocieerd is met atresie of stenose van de gehoorgang, aandachtstekortstoornissen, en vertraagde taalontwikkeling. De variatie in de grootte van oorschelp gaat van graad I, waarbij de oorschelp gewoon kleiner is dan normaal, tot graad IV, ook gekend als anotie, waarbij uitwendig oor en gehoorgang volledig afwezig zijn."},"pt":{"name":"Microtia"},"pl":{"name":"Mikrotia","definition":"Mikrotia to wrodzona malformacja ucha zewnętrznego, obserwowana częściej u płci męskiej, która występuje sporadycznie lub ma charakter dziedziczny, charakteryzujący się obustronnym występowaniem (79-93% przypadków, z czego 60% dotyczy ucha prawego) lub obecnością obustronnie małych i nieprawidłowo ukształtowanych małżowin, czemu często towarzyszy atrezja lub stenoza przewodu słuchowego, deficyty uwagi oraz opóźnienie rozwoju mowy. Wielkość małżowin jest zmienna od stopnia I, kiedy są one po prostu mniejsze od prawidłowych, do stopnia IV, zwanego też anotią (zobacz ten termin), kiedy w ogóle nie ma struktur ucha zewnętrznego i przewodu słuchowego"},"cs":{"name":"Mikrocie"},"uk":{"name":"Мікротія","definition":"A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal."},"zh":{"name":"小耳畸形"},"tr":{"name":"Mikroti"}},"xrefs":[{"source":"OMIM","code":"128800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600674","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q17.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA22.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2005415414"},{"source":"MONDO","code":"0010920","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065817","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152423","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027555","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156243,"name":"Pinnae and external auditory canal anomaly","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"HOXA2","name":"homeobox A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23775976[PMID]","hgnc":"5103","ensembl":"ENSG00000105996","omim":"604685","loci":["7p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":38.0,"area":"Specific population","status":"Validated","source":"16359491[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.5,"area":"Worldwide","status":"Not yet validated","source":"21656661[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"21656661[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.7,"area":"France","status":"Validated","source":"8933331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"France","status":"Validated","source":"8933331[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Italy","status":"Validated","source":"7666397[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Italy","status":"Not yet validated","source":"7666397[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Sweden","status":"Validated","source":"8933331[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Sweden","status":"Validated","source":"8933331[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.0,"area":"United States","status":"Validated","source":"8933331[PMID]_19760683[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"United States","status":"Validated","source":"8933331[PMID]_19760683[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":43.4,"area":"Finland","status":"Validated","source":"17548114[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Finland","status":"Validated","source":"17548114[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":174.0,"area":"Ecuador","status":"Validated","source":"3771073[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":83.0,"area":"Chile","status":"Validated","source":"17186100[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-03","source":"17764079[PMID]_22106030[PMID]_19759387[PMID]_19759387[PMID]","terms":[{"hpo":"HP:0008551","label":"Microtia","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0040119","label":"Unilateral conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009892","label":"Anotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008589","label":"Hypoplastic helices","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null}]}}