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congenital esophageal diverticulum - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital esophageal diverticulum

MONDO:0019620

Also known as:congenital esophageal pouch

Overview

Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations.

Newborn Screening32 states (Hypermethioninemia)

Diagnosis

Congenital esophageal diverticulum is included in newborn screening programs (Hypermethioninemia) in 32 states.

Biomarker and diagnostic research for congenital esophageal diverticulum 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 congenital esophageal diverticulum.

18 publications have been identified in PubMed for congenital esophageal diverticulum. Research spans Case Report / Case Series (72%), Review / Meta-Analysis (11%), and Diagnostic / Biomarker (6%).

Research Type	Count	% of Total
Patient case studies	13	72%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:91358

GARD

Genetic and Rare Diseases Info Center

GARD:19165

Questions for Your Care Team

→What follow-up testing and early intervention is recommended after a positive newborn screen?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital esophageal diverticulum

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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