{"orpha":139450,"name":"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Balikova-Vermeesch syndrome"],"definition":"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139450/","orphanet_url":"https://www.orpha.net/en/disease/detail/139450","names":{"fr":{"name":"Syndrome de microtie-colobome oculaire-imperforation du canal lacrymonasal","synonyms":["Syndrome de Balikova-Vermeesch"],"definition":"Ce syndrome se caractérise par une microtie, un colobome oculaire et une imperforation du canal lacrymal."},"de":{"name":"Mikrotie-Augenkolobom-imperforierter nasolakrimaler Gang-Syndrom","synonyms":["Balikova-Vermeesch-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch die Assoziation von Mikrotie, Kolobom der Augen und verschlossenen Ductus naso-lacrimalis."},"es":{"name":"Síndrome de microtia-coloboma del ojo-imperforación del conducto nasolagrimal","synonyms":["Síndrome de Balikova-Vermeesch"],"definition":"Es un síndrome caracterizado por la asociación de microtia, coloboma ocular e imperforación del conducto nasolagrimal."},"it":{"name":"Sindrome microtia-coloboma oculare-imperforazione del dotto nasolacrimale","synonyms":["Sindrome di Balikova-Vermeesch"]},"nl":{"name":"Microtie - oogcoloboom - imperforatie van ductus nasolacrimalis-syndroom","synonyms":["Syndroom van Balikova-Vermeesch"],"definition":"Een syndroom, gekenmerkt door de associatie van microtie, coloboom van oog, en atresie van ductus nasolacrimalis (traanbuis)."},"pt":{"name":"Microtia - coloboma ocular - ducto nasolacrimal imperfurado","synonyms":["Síndrome Balikova-Vermeesch"],"definition":"Esta síndrome é caracterizada pela associação de microtia, coloboma ocular e imperfuração do ducto nasolacrimal."},"pl":{"name":"Mikrocja - szczelina oka - niedrożność przewodu nosowo-łzowego","synonyms":["Zespół Balikova i Vermeescha"]},"cs":{"name":"Syndrom zahrnující mikrocii, oční kolobom a imperforovaný nazolakrimální vývod","synonyms":["Balikové-Vermeeschův syndrom","Balikova-Vermeeschův syndrom"]},"uk":{"name":"Синдром мікротії-колобоми ока-перфорації носослізної протоки","synonyms":["Синдром Балікова-Вермеша"],"definition":"This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct."},"zh":{"name":"小耳畸形-眼缺损-鼻泪管闭锁综合征","synonyms":["Balikova-Vermeesch综合征"],"definition":"该综合征的特征与小耳畸形、眼缺损和鼻泪管闭锁相关。"},"tr":{"name":"Mikrotia-göz kolobomu-nazolakrimal kanal sendromunun imperforasyonu","synonyms":["Balikova-Vermeesch sendromu"]}},"xrefs":[{"source":"OMIM","code":"611863","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q13.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518464","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10300","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":716299,"name":"Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"18179897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18179897[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000564","label":"Lacrimal duct atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null}]}}