{"orpha":2004,"name":"Laryngotracheoesophageal cleft","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["LC","LTEC","Laryngo-tracheo-esophageal cleft","Laryngo-tracheo-esophageal diastema"],"definition":"A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2004/","orphanet_url":"https://www.orpha.net/en/disease/detail/2004","names":{"fr":{"name":"Fente laryngo-trachéo-oesophagienne","synonyms":["Diastème laryngo-trachéo-oesophagien","LC","LTEC"],"definition":"Une fente laryngo-trachéo-oesophagienne (FLTO), ou diastème laryngé, est une malformation congénitale caractérisée par une communication sagittale et postérieure anormale entre le larynx et le pharynx, s'étendant éventuellement vers le bas, entre la trachée et l'oesophage. L'importance de cette extension distale fait distinguer cinq types de FLTO, du type 0 au type 4."},"de":{"name":"Laryngo-tracheo-ösophageale Spalte","synonyms":["LC","LTEC","Laryngo-tracheo-oesophageale Diastema"],"definition":"Die Laryngo-tracheo-ösophageale Spalte (LC) ist eine angeborene Fehlbildung mit abnormer posterio-sagittaler Verbindung zwischen Larynx und Pharynx, die sich zwischen Trachea und Ösophagus nach unten fortsetzen kann."},"es":{"name":"Hendidura laringotraqueoesofágica","synonyms":["Diastema laringotraqueoesofágica","Hendidura laringo-traqueo-esofágica","LC","LTEC"],"definition":"La hendidura laringotraqueoesofágica (LC) es una malformación congénita caracterizada por una comunicación posterior, anómala, entre la laringe y la faringe, que puede extenderse hacia abajo, entre la tráquea y el esófago."},"it":{"name":"Schisi laringo-tracheo-esofagea","synonyms":["Diastema laringo-tracheo-esofageo","LC","LTEC"],"definition":"La schisi laringo-tracheo-esofagea (SL) è una malformazione congenita caratterizzata da una anomala comunicazione sagittale posteriore tra la laringe a la faringe, che si estende generalmente verso il basso, tra la trachea e l'esofago."},"nl":{"name":"Laryngo-tracheo-oesofageale fissuur","synonyms":["LC","LTEC","Laryngo-tracheo-oesofageaal diasteem"],"definition":"Een congenitale malformatie, gekenmerkt door abnormale, posterieure, sagittale communicatie tussen larynx en farynx, en die zich mogelijk naar onder kan verderzetten tussen trachea en oesofagus."},"pt":{"name":"Fenda laringo-traqueo-esofágica","definition":"A fenda laringo-traqueo-esofágica (LC) é uma malformação congénita caracterizada por uma comunicação sagital posterior anormal entre a laringe e a faringe, possivelmente estendendo-se para baixo entre a traqueia e o esófago."},"pl":{"name":"Rozszczep krtaniowo-tchawiczo-przełykowy","synonyms":["Laryngo-tracheo-esophageal diastema","LC","LTEC","LC","LTEC","Przetoka krtaniowo-tchawiczo-przełykowa"]},"cs":{"name":"Laryngotracheoezofageální rozštěp","synonyms":["LC","LTEC","Laryngotracheoezofageální diastéma"]},"uk":{"name":"Ларинготрахеостравохідна розщілина","synonyms":["Ларинго-трахео-стравохідна щілина","Ларинго-трахео-стравохідна діастема","LC","LTEC"],"definition":"A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus."},"zh":{"name":"喉气管食管裂","synonyms":["喉-气管-食管间隙"]},"tr":{"name":"Laringotrakeoözofageal yarık","synonyms":["LC","LTEC","Laringo-trakeo-özofageal yarık","Laringo-trakeo-özofageal diastema"]}},"xrefs":[{"source":"OMIM","code":"215800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q32.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA72","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"271795917"},{"source":"MONDO","code":"0016060","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537875","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840311","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3188","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]},{"orpha":108959,"name":"Non-syndromic esophageal malformation","classifications":[147,156,182]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[{"orpha":280205,"name":"Laryngotracheoesophageal cleft type 0","type":"Clinical subtype"},{"orpha":93938,"name":"Laryngotracheoesophageal cleft type 1","type":"Clinical subtype"},{"orpha":93939,"name":"Laryngotracheoesophageal cleft type 2","type":"Clinical subtype"},{"orpha":93940,"name":"Laryngotracheoesophageal cleft type 3","type":"Clinical subtype"},{"orpha":93941,"name":"Laryngotracheoesophageal cleft type 4","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"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":"2019-06-17","source":"22151899[PMID]_4705933[PMID]_13787605[PMID]","terms":[{"hpo":"HP:0008751","label":"Laryngeal cleft","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001615","label":"Hoarse cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031162","label":"Impaired oropharyngeal swallow response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null}]}}