{"orpha":1199,"name":"Esophageal atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CEA","Congenital esophageal atresia","EA/TEF","Esophageal atresia with or without trachea-esophageal fistula","Oesophageal atresia"],"definition":"A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1199/","orphanet_url":"https://www.orpha.net/en/disease/detail/1199","names":{"fr":{"name":"Atrésie de l'oesophage","definition":"Malformation congénitale rare caractérisée par l'interruption de la continuité de l'oesophage, avec ou sans communication persistante avec la trachée. La présentation clinique varie selon l'anatomie, et peut conduire à l'incapacité d'avaler ou, dans les cas les plus sévères, à une détresse respiratoire."},"de":{"name":"Ösophagusatresie","synonyms":["CEA","EA/TEF","Kongenitale Ösophagusatresie","Speiseröhrenatresie","Ösophagusatresie mit oder ohne Trachea-Ösophagus-Fistel"],"definition":"Eine seltene angeborene Fehlbildung, die durch eine Unterbrechung der Kontinuität der Speiseröhre gekennzeichnet ist, mit oder ohne persistierende Verbindung zur Luftröhre. Das klinische Erscheinungsbild variiert je nach Anatomie und kann zu Schluckstörungen oder, in den schwersten Fällen, zu Atemnot führen."},"es":{"name":"Atresia esofágica","synonyms":["Atresia esofágica con o sin fístula traqueoesofágica","Atresia esofágica congénita","AE/FTE","Atresia de esófago"],"definition":"Es una malformación congénita poco frecuente caracterizada por una interrupción en la continuidad del esófago, con o sin comunicación persistente con la tráquea. La presentación clínica varía en función de la anatomía y puede conducir desde incapacidad para tragar hasta, en los casos más graves, a distrés respiratorio."},"it":{"name":"Atresia esofagea","synonyms":["Atresia dell'esofago","Atresia esofagea con o senza fistola tracheo-esofagea","Atresia esofagea congenita","CEA","EA/TEF"],"definition":"L'atresia esofagea (AE) comprende un gruppo di difetti congeniti caratterizzati dall'interruzione della continuità dell'esofago, che comunica o meno con la trachea."},"nl":{"name":"Atresie van oesofagus","synonyms":["Atresie van slokdarm","CEA","Congenitale oesofageale atresie","EA/TEF","Oesofageale atresie","Oesofageale atresie met of zonder trachea-oesofageale fistel"],"definition":"Een zeldzame congenitale malformatie, gekenmerkt door onderbreking van de continuïteit van oesofagus, met of zonder persisterende communicatie met trachea. De klinische presentatie varieert naargelang de anatomie, en kan leiden tot onvermogen om te slikken of, in de meest ernstige gevallen, ademnood."},"pt":{"name":"Atresia esofágica","synonyms":["Atresia esofágica com ou sem fistula traqueo-esofágica","Atresia esofágica congénita","CEA","EA/TEF"],"definition":"Malformação congénita rara caracterizada por interrupção da continuidade do esôfago, com ou sem comunicação persistente com a traqueia. A apresentação clínica varia de acordo com a anatomia, e pode originar incapacidade de engolir ou, nos casos mais graves, a dificuldade respiratória."},"pl":{"name":"Atrezja przełyku","synonyms":["CEA","Congenital esophageal atresia","EA/TEF","Esophageal atresia with or without trachea-esophageal fistula","Oesophageal atresia"]},"cs":{"name":"Atrézie jícnu","synonyms":["CEA","Congenital esophageal atresia","EA/TEF","Esophageal atresia with or without trachea-esophageal fistula","Oesophageal atresia"]},"uk":{"name":"Атрезія стравоходу","synonyms":["CEA","Вроджена атрезія стравоходу","EA/TEF","Атрезія стравоходу з трахео-стравохідною норицею або без неї","Атрезія стравоходу"],"definition":"A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress."},"zh":{"name":"食管闭锁"},"tr":{"name":"Özofagus atrezisi"}},"xrefs":[{"source":"OMIM","code":"189960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q39.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q39.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB12.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1582061097"},{"source":"MeSH","code":"D004933","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014850","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6381","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10030146","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2042,"name":"OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108959,"name":"Non-syndromic esophageal malformation","classifications":[147,156,182]}],"children":[{"orpha":728877,"name":"Esophageal atresia type A","type":"Clinical subtype"},{"orpha":728882,"name":"Esophageal atresia type B","type":"Clinical subtype"},{"orpha":728885,"name":"Esophageal atresia type C","type":"Clinical subtype"},{"orpha":728888,"name":"Esophageal atresia type D","type":"Clinical subtype"},{"orpha":728891,"name":"Esophageal atresia type E","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.3,"area":"Europe","status":"Validated","source":"22247246[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"22247246[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.5,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2008[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.5,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.4,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":42.5,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.8,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":23.8,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":26.6,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.8,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.4,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.9,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":17.1,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":34.4,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.7,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.9,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.7,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.1,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.4,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.3,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.0,"area":"United States","status":"Validated","source":"8013895[PMID]_15826889[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-19","source":"31000707[PMID]_17498283[PMID]_20301753[PMID]","terms":[{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010963","label":"Absence of stomach bubble on fetal sonography","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006510","label":"Chronic pulmonary obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003781","label":"Excessive salivation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012523","label":"Oral aversion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004885","label":"Episodic respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008755","label":"Laryngotracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012718","label":"Morphological abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001604","label":"Vocal cord paresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100580","label":"Barrett esophagus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002672","label":"Gastrointestinal carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008751","label":"Laryngeal cleft","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}