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esophageal duplication cyst - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

esophageal duplication cyst

MONDO:0015050

Overview

A rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.

Diagnosis

Biomarker and diagnostic research for esophageal duplication cyst has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for esophageal duplication cyst.

28 publications have been identified in PubMed for esophageal duplication cyst. Research spans Case Report / Case Series (86%), Other (4%), and Diagnostic / Biomarker (4%).

Research Type	Count	% of Total
Patient case studies	24	86%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:100047

GARD

Genetic and Rare Diseases Info Center

GARD:19744

Questions for Your Care Team

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esophageal duplication cyst

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications