{"orpha":645749,"name":"Congenital esophageal stenosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CES","Congenital oesophageal stenosis"],"definition":"A rare non-syndromic esophageal malformation characterized by intrinsic narrowing of the esophagus, caused by congenital malformation of esophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Esophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-645749/","orphanet_url":"https://www.orpha.net/en/disease/detail/645749","names":{"fr":{"name":"Sténose congénitale de l'oesophage","synonyms":["Sténose oesophagienne congénitale"],"definition":"Malformation rare non syndromique de l'oesophage caractérisée par un rétrécissement intrinsèque de l'oesophage, dû à une malformation congénitale de l'architecture de la paroi de l'oesophage présente à la naissance. Les patients présentent une dysphagie ainsi que des vomissements progressifs. Un retard de croissance ou une détresse respiratoire peuvent être observés, et certains aliments peuvent rester coincés dans l'oesophage. Les symptômes sont souvent attribués à des coliques ou à un reflux, ce qui complique souvent la pose du diagnostic."},"de":{"name":"Ösophagusstenose, kongenitale","synonyms":["Angeborene Stenose der Speiseröhre","CES"],"definition":"Eine seltene nicht-syndromale Ösophagusfehlbildung, die durch eine intrinsische Verengung der Speiseröhre gekennzeichnet ist, die durch eine angeborene Fehlbildung der Speiseröhrenwandarchitektur bei der Geburt verursacht wird. Die Patienten zeigen Dysphagie und progressives Erbrechen. Es kann zu Speiseröhrenverstopfung, Gedeihstörung oder Atemnot kommen. Die Symptome werden häufig mit Koliken oder Reflux in Verbindung gebracht, so dass die Diagnose oft schwierig ist."},"es":{"name":"Estenosis esofágica congénita","synonyms":["EEC"],"definition":"Es una malformación esofágica poco frecuente y no sindrómica caracterizada por un estrechamiento intrínseco del esófago causado por una malformación congénita de la arquitectura de la pared esofágica presente al nacimiento. Los pacientes experimentan disfagia y vómitos progresivos. Puede haber impactación esofágica alimentaria, fallo de medro o dificultad respiratoria. Los síntomas suelen atribuirse a cólicos o a reflujo, dificultando el diagnóstico."},"it":{"name":"Stenosi congenita dell’esofago","synonyms":["CES","Stenosi esofagea congenita"]},"nl":{"name":"Congenitale stenose van oesofagus","synonyms":["CES","Congenitale oesofageale stenose"],"definition":"Een zeldzame niet-syndromale malformatie van oesofagus, gekenmerkt door intrinsieke vernauwing van de slokdarm, veroorzaakt door congenitale malformatie van de bouw van de wand van de oesofagus die aanwezig is bij de geboorte. Patiënten vertonen dysfagie en progressief braken. Voedselimpactie in de slokdarm, niet-gedijen of ademnood kunnen ook aanwezig zijn. Symptomen worden vaak toegekend aan kolieken of reflux, dus de diagnose is vaak moeilijk."},"pt":{"name":"Estenose esofágica congénita","synonyms":["CES","Estenose congénita do esófago"],"definition":"Malformação esofágica rara não sindrómica caracterizada por estreitamento intrínseco do esófago, causada por malformação congénita da arquitetura da parede esofágica presente no nascimento. Os doentes manifestam disfagia e vómitos progressivos. Impactação alimentar esofágica, falha de crescimento ou dificuldade respiratória podem estar presentes. Os sintomas são frequentemente atribuídos a cólica ou refluxo, portanto o diagnóstico é frequentemente difícil."},"pl":{"name":"Wrodzone zwężenie przełyku","synonyms":["CES","Congenital oesophageal stenosis"],"definition":"Rzadka niesyndromiczna wada przełyku charakteryzująca się wewnętrznym zwężeniem przełyku wskutek wrodzonej wady budowy ściany przełyku, widocznym od urodzenia. Może wystąpić dysfagia i postępujące wymioty, zalegania pokarmu w przełyku, brak prawidłowego rozwoju lub niewydolność oddechowa. Objawy są często przypisywane kolce lub refluksowi, dlatego diagnoza jest trudna."},"cs":{"name":"Vrozená stenóza jícnu","synonyms":["CES","Congenital oesophageal stenosis"]},"uk":{"name":"Вроджений стеноз стравоходу","synonyms":["CES","Вроджений стеноз стравоходу"],"definition":"A rare non-syndromic esophageal malformation characterized by intrinsic narrowing of the esophagus, caused by congenital malformation of esophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Esophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult."}},"xrefs":[{"source":"ICD-10","code":"Q39.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB12.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"493191530"},{"source":"MONDO","code":"0957459","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1963580","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010564","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"United States","status":"Validated","source":"25789088[PMID]_ORPHANET"}],"phenotypes":null}