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isolated tracheo-esophageal fistula - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated tracheo-esophageal fistula

MONDO:0018694

Also known as:H-type tracheoesophageal fistulatracheo-esophageal fistulatracheoesophageal fistula

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Overview

A rare, congenital, esophageal disorder 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.

Clinical Trials3 registered · 2 recruiting

Patient Orgs1 organizations · Tracheo Oesophageal Fistula Support

Diagnosis

Biomarker and diagnostic research for isolated tracheo-esophageal fistula has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

3 clinical trials registered, 2 recruiting. Interventions under study include drug therapy, other interventions, medical devices, and procedural interventions. Pipeline includes 3 NA. Research is primarily sponsored by academic and government institutions.

165 publications have been identified in PubMed for isolated tracheo-esophageal fistula. Research spans Case Report / Case Series (27%), Clinical Trial Publication (25%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Patient case studies	45

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Tracheo Oesophageal Fistula Support

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:454750

GARD

Genetic and Rare Diseases Info Center

GARD:21895

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Tracheo Oesophageal Fistula Support and other patient organizations for support?

← Back to All Diseases

isolated tracheo-esophageal fistula

Overview

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications