RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:454750

Isolated tracheoesophageal fistula

high confidenceDisorder

Also known as: H-type tracheoesophageal fistula

Publications

10,290

97.4th percentile

Trials

12

Interventional, condition-specific

Researchers

1,153

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, , esophageal 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 episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

tracheo-esophageal fistula · tracheoesophageal fistula

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    10,290 matched papers (4,620 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    12 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

10,290

10,290 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

10,290 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

4,620 in the last 10 years · high confidence · 97.4th percentile (publications denominator)

Phrase hits: 10,290 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,153

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Zendejas B6 papers · 2026

    Department of Surgery, Esophageal and Airway Treatment Center, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, USA.

    Papers in Europe PMC
  2. 02
    Boybeyi Ö4 papers · 2026

    Hacettepe University, Faculty of Medicine, Department of Pediatric Surgery, Ankara, Turkiye.

    Papers in Europe PMC
  3. 03
    Gupta R4 papers · 2026

    Division of Plastic and Reconstructive Surgery, Department of Surgery, Saint Louis University School of Medicine, Saint Louis, MO.

    Papers in Europe PMC
  4. 04
    Slater G4 papers · 2026

    TOFS Charity, Nottingham, UK.

    Papers in Europe PMC
  5. 05
    Soyer T4 papers · 2026

    Hacettepe University, Faculty of Medicine, Department of Pediatric Surgery, Ankara, Turkiye. Electronic address: soyer.tutku@gmail.com.

    Papers in Europe PMC
  6. 06
    Zhang Y4 papers · 2026

    Department of General Surgery, Capital Center for Children's Health, Capital Medical University, Beijing, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Arslan UE3 papers · 2026

    Hacettepe University Institute of Public Health, Department of Health Research, Ankara, Turkiye.

    Papers in Europe PMC
  8. 08
    Bennett J3 papers · 2026

    Esophageal and Airway Treatment Center, Department of Pediatric General Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  9. 09
    Cardoni L3 papers · 2026

    Esophageal and Airway Treatment Center, Department of Pediatric General Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  10. 10
    Cole L3 papers · 2026

    Esophageal and Airway Treatment Center, Department of Pediatric General Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).

high confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

12 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Isolated tracheoesophageal fistula" OR "H-type tracheoesophageal fistula" OR "tracheo-esophageal fistula" OR "tracheoesophageal fistula"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Isolated tracheoesophageal fistula" OR "H-type tracheoesophageal fistula" OR "tracheo-esophageal fistula" OR "tracheoesophageal fistula"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 12 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T16:43:30.591Z