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ORPHA:454750

Isolated tracheoesophageal fistula

high confidenceDisorder

Also known as: H-type tracheoesophageal fistula

Publications

10,290

94.3th percentile

Trials

12

Interventional, condition-specific

Researchers

1,153

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 characterisedPresent

    10 HPO annotations (e.g. Recurrent pneumonia; Feeding difficulties in infancy; Recurrent coughing spasms) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

10

Associated phenotypes · MONDO:0018694

  • Recurrent pneumonia
  • Feeding difficulties in infancy
  • Recurrent coughing spasms
  • Failure to thrive
  • Gastroesophageal reflux

Showing 5 of 10 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

10,290 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,620 in the last 10 years · high confidence · 94.3th 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 11 September 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

high confidence · 93.2th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Isolated tracheoesophageal fistula — check Associations / patient organisations on that page.

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