{"orpha":454750,"name":"Isolated tracheoesophageal fistula","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["H-type tracheoesophageal fistula"],"definition":"A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-454750/","orphanet_url":"https://www.orpha.net/en/disease/detail/454750","names":{"fr":{"name":"Fistule trachéo-oesophagienne isolée","synonyms":["Fistule trachéo-oesophagienne de type H"],"definition":"Malformation congénitale rare de l'oesophage caractérisée par la présence d'une communication anormale entre l'oesophage et la trachée (survenant généralement dans la région cervicale inférieure ou thoracique supérieure et empruntant une voie oblique vers le haut jusqu'à la trachée), sans atrésie oesophagienne concomitante. Selon la taille de la lumière, la présentation varie entre des épisodes néonatals d'étouffement et de cyanose lors de la prise alimentaire et des symptômes plus subtils de respiration sifflante et d'infections respiratoires récurrentes dans l'enfance ou au début de l'âge adulte."},"de":{"name":"Tracheoösophageale Fistel, isolierte","synonyms":["Tracheo-ösophageale Fistel, isolierte, Typ H"],"definition":"Eine seltene angeborene Fehlbildung der Speiseröhre, die durch das Vorhandensein einer abnormalen Verbindung zwischen der Speiseröhre und der Luftröhre gekennzeichnet ist (typischerweise im unteren Hals- oder oberen Brustbereich auftretend und schräg nach oben zur Luftröhre verlaufend), ohne begleitende Ösophagusatresie. Je nach Größe des Lumens variiert das Erscheinungsbild von Erstickungsanfällen bei Neugeborenen und Zyanose bei der Nahrungsaufnahme bis hin zu subtilen Symptomen wie Keuchen und wiederkehrenden Atemwegsinfektionen in der Kindheit oder im frühen Erwachsenenalter."},"es":{"name":"Fístula traqueoesofágica aislada","synonyms":["Fístula traqueoesofágica tipo H"],"definition":"Es una malformación esofágica congénita poco frecuente caracterizada por la presencia de una conexión anómala entre el esófago y la tráquea (que ocurre típicamente en el área cervical inferior o torácica superior, siguiendo un camino oblicuo hacia arriba hasta la tráquea), sin atresia esofágica concomitante. Dependiendo del tamaño de la luz, la presentación varía desde episodios neonatales de asfixia y cianosis durante la alimentación hasta síntomas leves de sibilancias e infecciones respiratorias recurrentes en la infancia o la edad adulta temprana."},"it":{"name":"Fistola tracheo-esofagea isolata","definition":"Si tratta di una malformazione congenita rara dell'esofago, caratterizzata dalla presenza di una connessione anomala tra l'esofago e la trachea (in genere localizzata nella zona cervicale inferiore o toracica superiore, che segue un percorso obliquo verso l'alto nella direzione della trachea), in assenza di atresia esofagea. A seconda delle dimensioni del lume, il quadro clinico comprende episodi neonatali di soffocamento e cianosi durante l'alimentazione, fino ai sintomi sfumati come l'affanno e le infezioni respiratorie ricorrenti nell'infanzia o nella prima età adulta."},"nl":{"name":"Geïsoleerde tracheo-oesofageale fistel","synonyms":["tracheo-oesofageale fistel, H-type"],"definition":"Een zeldzame, congenitale malformatie van oesofagus, gekarakteriseerd door de aanwezigheid van een abnormale verbinding tussen slokdarm en luchtpijp (doorgaans ter hoogte van onderste cervicale of bovenste thoracale deel en opwaarts helend naar trachea), zonder concomitante atresie van oesofagus. Afhankelijk van de omvang van het lumen varieert de presentatie van neonatale episodes van verstikking en cyanose bij voeden tot subtiele symptomen van piepende ademhaling en recidiverende respiratoire infecties in de kindertijd of vroege volwassenheid."},"pt":{"name":"Fistula traqueo-esofágica isolada"},"pl":{"name":"Izolowana przetoka tchawiczo-przełykowa","synonyms":["H-type tracheoesophageal fistula"]},"cs":{"name":"Izolovaná tracheoezofageální píštěl","synonyms":["H-type tracheoesophageal fistula"]},"uk":{"name":"Ізольована трахеостравохідна нориця","synonyms":["Трахеостравохідна нориця Н-типу"],"definition":"A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood."},"zh":{"name":"孤立性气管食管瘘","synonyms":["H型气管食管瘘"]},"tr":{"name":"İzole trakeoözofageal fistül","synonyms":["H-tipi trakeoözofageal fistül"]}},"xrefs":[{"source":"ICD-10","code":"Q39.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB12.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"233656382"},{"source":"MONDO","code":"0018694","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0040588","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"21895","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Australia","status":"Validated","source":"25976171[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Worldwide","status":"Validated","source":"22945024[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.2,"area":"Worldwide","status":"Validated","source":"22945024[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Australia","status":"Validated","source":"25976171[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-01","source":"30570997[PMID]_33815610[PMID]","terms":[{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033362","label":"Recurrent coughing spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200048","label":"Cyanotic episode","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null}]}}