{"orpha":1202,"name":"Larynx atresia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1202/","orphanet_url":"https://www.orpha.net/en/disease/detail/1202","names":{"fr":{"name":"Atrésie du larynx","definition":"Anomalie rare du larynx caractérisée par l'absence complète de la lumière du larynx, entraînant un syndrome congénital d'obstruction des voies respiratoires supérieures qui, sans intervention en période prénatale ou néonatale, est incompatible avec la vie. L'échographie foetale met en évidence une trachée dilatée, des poumons hyperéchoïques, un épanchement pleural, de très légères ascites abdominales ou un hydrops chez le foetus, ainsi que des anomalies du liquide amniotique."},"de":{"name":"Kehlkopfatresie","synonyms":["Larynx-Atresie"],"definition":"Eine seltene Kehlkopfanomalie, die durch das vollständige Fehlen des Kehlkopflumens gekennzeichnet ist und zu einer angeborenen Obstruktion der oberen Atemwege führt, die ohne fetale oder neonatale Intervention mit dem Leben unvereinbar ist. Die fetale Sonographie zeigt eine dilatierte Trachea, hyperechoische Lungen, Pleuraerguss, minimale fetale Aszites oder Hydrops und Fruchtwasseranomalien."},"es":{"name":"Atresia de laringe","definition":"Es una anomalía laríngea poco frecuente caracterizada por la ausencia completa de la luz laríngea, resultando en un síndrome de obstrucción congénita de las vías respiratorias superiores que, sin intervención fetal o neonatal, es incompatible con la vida. La ecografía fetal muestra dilatación de la tráquea, pulmones hiperecogénicos, derrame pleural, ascitis fetal abdominal mínima o hidropesía y anomalías del líquido amniótico."},"it":{"name":"Atresia laringea","definition":"Si tratta di un'anomalia rara della laringe, caratterizzata dall'agenesia del lume laringeo che sia associa all'ostruzione congenita delle vie aeree superiori che, in assenza di un intervento in epoca prenatale o neonatale, è letale. L'ecografia fetale evidenzia la dilatazione della trachea, polmoni iperecogeni, versamento pleurico, ascite addominale o idrope fetale, e anomalie del liquido amniotico."},"nl":{"name":"Larynxatresie","definition":"Een zeldzame anomalie van larynx, gekenmerkt door volledige afwezigheid van laryngeaal lumen, wat resulteert in syndroom van congenitale obstructie van bovenste luchtwegen, dat zonder foetale of neonatale interventie niet levensvatbaar is. Foetale echografie toont een gedilateerde luchtpijp, hyperechogene longen, pleurale effusie, minimale foetale abdominale ascites of hydrops, en afwijkingen van vruchtwater."},"pt":{"name":"Atresia laringea"},"pl":{"name":"Atrezja krtani"},"cs":{"name":"Atrézie laryngu"},"uk":{"name":"Атрезія гортані","definition":"A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities."},"zh":{"name":"喉闭锁"},"tr":{"name":"Gırtlak atrezisi"}},"xrefs":[{"source":"OMIM","code":"150300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q31.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"798758075"},{"source":"MONDO","code":"0007879","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265756","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3194","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435609,"name":"Genetic larynx anomaly","classifications":[156]},{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}