{"orpha":3023,"name":"External auditory canal atresia-vertical talus-hypertelorism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Rasmussen-Johnsen-Thomsen syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3023/","orphanet_url":"https://www.orpha.net/en/disease/detail/3023","names":{"fr":{"name":"Syndrome d'atrésie du canal auditif externe-pied en piolet-hypertélorisme","synonyms":["Syndrome de Rasmussen-Johnsen-Thomsen"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par la triade suivante : atrésie congénitale, bilatérale, symétrique et partielle du canal auditif externe ; pieds en piolet bilatéraux ; hypertélorisme orbital."},"de":{"name":"Gehörgangsatresie-vertikaler Talus-Hypertelorismus-Syndrom","synonyms":["Rasmussen-Johnsen-Thomsen-Syndrom"]},"es":{"name":"Síndrome de atresia del conducto auditivo externo-talud vertical-hipertelorismo","definition":"Es un síndrome dismórfico / por múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por la tríada de atresia congénita subtotal bilateral simétrica del conducto auditivo externo, astrágalo vertical bilateral e incremento de la distancia interocular."},"it":{"name":"Sindrome da atresia del canale uditivo esterno - talo verticale - ipertelorismo","definition":"È una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata dalla triade atresia del canale uditivo esterno bilaterale, simmetrica, subtotale e congenita, talo verticale bilaterale e aumento della distanza interoculare."},"nl":{"name":"Atresie van uitwendige gehoorgang - verticale talus - hypertelorisme-syndroom","synonyms":["Syndroom van Rasmussen-Johnsen-Thomsen"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door de triade van congenitale, bilaterale, symmetrische, subtotale atresie van de uitwendige gehoorgang, bilaterale verticale talus en verhoogde interoculaire afstand."},"pt":{"name":"Síndrome de atresia do canal auditivo externo-talo vertical-hipertelorismo","synonyms":["Síndrome Rasmussen-Johnsen-Thomsen"]},"pl":{"name":"Zespół atrezji zewnętrznego przewodu słuchowego, stopy płasko-koślawej i hiperteloryzmu","synonyms":["Rasmussen-Johnsen-Thomsen syndrome"]},"cs":{"name":"Rasmussenové-Johnsenův-Thomsenův syndrom","synonyms":["Rasmussen-Johnsen-Thomsenův syndrom"]},"uk":{"name":"Синдром атрезії зовнішнього слухового проходу-vertical talus-гіпертелоризму","synonyms":["Синдром Расмуссена-Джонсена-Томсена"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance."},"zh":{"name":"外耳道闭锁-垂直距骨-器官间距过远综合征","synonyms":["Rasmussen-Johnsen-Thomsen综合征"]},"tr":{"name":"Eksternal kulak yolu atrezi-vertikal talus-hipertelorizm sendromu","synonyms":["Rasmussen-Johnsen-Thomsen sendromu"]}},"xrefs":[{"source":"OMIM","code":"133705","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007587","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535290","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930867","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4638","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"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":156243,"name":"Pinnae and external auditory canal anomaly","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable","Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22152683[PMID]_495079[PMID]_12116258[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"22152683[PMID]_495079[PMID]_12116258[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}