{"orpha":1200,"name":"Burn-McKeown syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"],"definition":"A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1200/","orphanet_url":"https://www.orpha.net/en/disease/detail/1200","names":{"fr":{"name":"Syndrome de Burn-McKeown","synonyms":["Syndrome d'atrésie des choanes-surdité-cardiopathie-dysmorphie craniofaciale"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par une atrésie choanale bilatérale associée à une dysmorphie craniofaciale typique (hypertélorisme avec fentes palpébrales étroites, colobome des paupières inférieures, présence de cils en position médiane du colobome, pont nasal proéminent, lèvres fines, oreilles proéminentes), qui peut s'accompagner d'une perte auditive, d'une fente labiale unilatérale, d'enchondromes préauriculaires, de défauts du septum cardiaque et d'anomalies rénales. Les patients ne présentent aucune déficience intellectuelle."},"de":{"name":"Burn-McKeown-Syndrom","synonyms":["Choanalatresie-Schwerhörigkeit-Herzfehler-kraniofaziale Dysmorphien-Syndrom"],"definition":"Ein seltenes Syndrom multipler kongenitaler Anomalien, das durch eine beidseitige Choanalatresie in Verbindung mit charakteristischen kranio-fazialen Dysmorphien gekennzeichnet ist (Hypertelorismus mit schmalen Lidspalten, Kolobom des unteren Augenlids mit Vorhandensein von Wimpern in der Mitte des Defekts, hervorstehender Nasenrücken, dünne Lippen, abstehende Ohren), die von Schwerhörigkeit, einseitiger Lippenspalte, präaurikulären Anhängseln, Herzscheidewanddefekten und Nierenanomalien begleitet sein können. Betroffene Personen sind normal intelligent."},"es":{"name":"Síndrome de Burn-McKeown","synonyms":["Síndrome de atresia de coanas-hipoacusia-defectos cardíacos-dismorfia craneofacial"],"definition":"Es un síndrome de múltiples anomalías congénitas poco frecuente caracterizado por atresia de coanas bilateral asociada a dismorfia cráneo-facial característica (hipertelorismo con fisuras palpebrales estrechas, coloboma del párpado inferior con defectos en la porción medial de las pestañas, puente nasal prominente, labios finos, orejas prominentes), que puede ir acompañado de hipoacusia, labio leporino unilateral, apéndices preauriculares, defectos del tabique cardíaco y anomalías renales. Los individuos afectos presentan una capacidad intelectual normal."},"it":{"name":"Sindrome di Burn-McKeown","synonyms":["Sindrome atresia delle coane-sordità-cardiopatia-dismorfismi craniofacciali"],"definition":"La sindrome di Burn-McKeown è una malattia rara da anomalie congenite multiple, caratterizzata da atresia bilaterale delle coane associata a dismorfismi craniofacciali distintivi (ipertelorismo con rime palpebrali strette, coloboma della palpebra inferiore con ciglia in posizione mediana rispetto al difetto, sella nasale prominente, labbra sottili, orecchie prominenti). I pazienti possono presentare anche sordità, labioschisi monolaterale, appendici preauricolari, difetti del setto cardiaco e anomalie dei reni. L'intelligenza è normale."},"nl":{"name":"Syndroom van Burn-McKeown","synonyms":["Choane atresie - gehoorverlies - hartdefecten - craniofaciale dysmorfie-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door bilaterale choanale atresie geassocieerd met typische craniofaciale dysmorfie (hypertelorisme met smalle ooglidspleten, coloboom van onderste oogleden met aanwezigheid van wimpers mediaal van het defect, prominente neusbrug, dunne lippen, prominente oren), en mogelijk vergezeld van gehoorverlies, unilateraal gespleten lip, pre-auriculaire aanhangsels, hartseptumdefecten en nieranomalieën. Getroffen individuen hebben een normale intelligentie."},"pt":{"name":"Síndrome Burn-McKeown","synonyms":["Síndrome de atresia da coanas-perda auditiva-anomalias cardíacas-dismorfia"]},"pl":{"name":"Zespół Burna i McKeowna","synonyms":["Zespół Burna i McKeowna"]},"cs":{"name":"Syndrom zahrnující choanální atrézii, ztrátu sluchu, srdeční vady a kraniofaciální dysmorfismus","synonyms":["Burnův-McKeownové syndrom","Burn-McKeownové syndrom"]},"uk":{"name":"Синдром Берна-МакКеона","synonyms":["Синдром атрезії хоан - втрати слуху - вади серця - черепно-лицевого дизморфізму"],"definition":"A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence."},"zh":{"name":"鼻后孔闭锁-听力丧失-心脏缺陷-颅面畸形综合征","synonyms":["Burn-McKeown综合征"]},"tr":{"name":"Koanal atrezi-işitme kaybı-kardiyak defektler-kraniyofasiyal dismorfizm sendromu","synonyms":["Burn-McKeown sendromu"]}},"xrefs":[{"source":"OMIM","code":"608572","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616462","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537411","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837822","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10041","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":77302,"name":"Oculo-oto-facial dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"TXNL4A","name":"thioredoxin like 4A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25434003[PMID]","hgnc":"30551","ensembl":"ENSG00000141759","omim":"611595","loci":["18q23"]},{"symbol":"POLR1A","name":"RNA polymerase I subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25913037[PMID]","hgnc":"17264","ensembl":"ENSG00000068654","omim":"616404","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"25434003[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25434003[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004502","label":"Bilateral choanal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}