{"orpha":3216,"name":"Conductive deafness-malformed external ear syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Conductive hearing loss-malformed external ear syndrome","Mengel-Konigsmark syndrome"],"definition":"A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3216/","orphanet_url":"https://www.orpha.net/en/disease/detail/3216","names":{"fr":{"name":"Syndrome de surdité de conduction-anomalie de l'oreille externe","synonyms":["Syndrome de Mengel-Konigsmark"],"definition":"Surdité génétique syndromique rare caractérisée par une perte auditive de conduction légère à modérée, des anomalies du pavillon de l'oreille, ainsi que par la présence d'une fistule labiale ou de fossettes. Le pavillon de l'oreille est généralement de petite taille, en forme de coupe, avec un hélix replié vers l'avant. La perte auditive est liée à la malformation des osselets et au déplacement du conduit auditif externe."},"de":{"name":"Schallleitungsschwerhörigkeit - Fehlbildungen des äußeren Ohres","synonyms":["Mengel-Konigsmark-Syndrom"]},"es":{"name":"Síndrome de sordera conductiva-malformación del pabellón auricular","synonyms":["Síndrome de Mengel-Konigsmark","Síndrome de hipoacusia conductiva-malformación del pabellón auricular"],"definition":"Es una hipoacusia sindrómica genética muy poco frecuente caracterizada por pérdida auditiva conductiva de leve a moderada, pinnas dismórficas y depresiones puntiformes u hoyuelos en los labios. Las pinnas suelen ser pequeñas, en forma de copa, con la hélix plegada hacia adelante. La pérdida de audición se asocia a malformaciones en los huesecillos del oído medio y al desplazamiento del canal auditivo externo."},"it":{"name":"Sindrome sordità di conduzione e malformazioni dell'orecchio esterno","definition":"È una sordità genetica sindromica molto rara, caratterizzata da sordità di conduzione lieve-moderata, padiglioni auricolari dismorfici e fossette o avvallamenti del labbro. Di solito i padiglioni auricolari sono piccoli e a forma di coppa e l'elice è ripiegato anteriormente. La sordità è causata da malformazioni degli ossicini e dalla dislocazione del canale acustico esterno."},"nl":{"name":"Conductieve doofheid - misvormd buitenoor-syndroom","synonyms":["Conductief gehoorverlies - misvormd buitenoor-syndroom","Syndroom van Mengel-Konigsmark"],"definition":"Een zeer zeldzame, syndromale, genetische doofheid die gekarakteriseerd wordt door mild tot matig conductief gehoorverlies, dysmorfe oorschelpen en puntvormige indeukingen of kuiltjes in de lippen. De oorschelpen meestal klein en komvormig met naar voren geplooide helix, en gehoorverlies is geassocieerd met misvormde gehoorbeentjes en verplaatsing van de uitwendige gehoorgang."},"pt":{"name":"Síndrome de surdez de transmissão-malformação do pavilhão auricular","synonyms":["Síndrome Mengel-Konigsmark","Síndrome de perda auditiva de transmissão-malformação do pavilhão auricular"]},"pl":{"name":"Głuchota przewodzeniowa - źle wykształcone ucho zewnętrzne","synonyms":["Zespół Mengela i Konigsmarka"]},"cs":{"name":"Syndrom zahrnující převodní nedoslýchavost a malformace vnějšího ucha","synonyms":["Mengelův-Konigsmarkův syndrom","Mengel-Konigsmarkův syndrom"]},"uk":{"name":"Синдром кондуктивної глухоти - аномалії розвитку зовнішнього вуха","synonyms":["Синдром кондуктивної приглухуватості - деформації зовнішнього вуха","Синдром Менгеля-Конігсмарка"],"definition":"A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal."},"zh":{"name":"传导性耳聋-外耳畸形综合征","synonyms":["Mengel-Konigsmark综合征"]},"tr":{"name":"İletken sağırlık-bozuk eksternal kulak sendromu","synonyms":["İletim tipi işitme kaybı-kusurlu eksternal kulak sendromu","Mengel-Konigsmark sendromu"]}},"xrefs":[{"source":"OMIM","code":"221300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q17.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009083","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537239","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931454","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1460","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"5771216[PMID]_624552[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5771216[PMID]_624552[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null}]}}