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ORPHA:1199

Esophageal atresia

medium confidenceDisorder

Also known as: CEA · Congenital esophageal atresia · EA/TEF · Esophageal atresia with or without trachea-esophageal fistula · Oesophageal atresia

Publications

12,949

97.9th percentile

Trials

17

Interventional, condition-specific

Researchers

1,204

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

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

    12,949 matched papers (6,301 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

    17 matched on ClinicalTrials.gov (4 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?

12,949

12,949 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.

12,949 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).

6,301 in the last 10 years · medium confidence · 97.9th percentile (publications denominator)

Phrase hits: 12,949 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,204

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
    Li S10 papers · 2026

    Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China; National Center for Children's Health, Beijing, 100045, China.

    Papers in Europe PMC
  2. 02
    Zendejas B10 papers · 2026

    Department of Surgery, Boston Children's Hospital, Boston, MA, USA. Electronic address: benjamin.zendejas@childrens.harvard.edu.

    Papers in Europe PMC
  3. 03
    Zhang Y9 papers · 2026

    Department of Obstetrics and Gynecology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.

    Papers in Europe PMC
  4. 04
    Huang J7 papers · 2026

    Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China; National Center for Children's Health, Beijing, 100045, China. Electronic address: hjsbch@163.com.

    Papers in Europe PMC
  5. 05
    Hua K6 papers · 2026

    Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China; National Center for Children's Health, Beijing, 100045, China.

    Papers in Europe PMC
  6. 06
    Li B6 papers · 2026

    Department of Fetal & Neonatal Surgery, Hunan Children's Hospital, Changsha 410007, China.

    Papers in Europe PMC
  7. 07
    Slater G6 papers · 2026

    EAT Oesophageal Atresia Global Support Groups e.V., Stuttgart, Germany.

    Papers in Europe PMC
  8. 08
    Zhao Y6 papers · 2026

    Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China; National Center for Children's Health, Beijing, 100045, China.

    Papers in Europe PMC
  9. 09
    Bennett J5 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
    Borselle D5 papers · 2026

    Department of Pediatrics Surgery and Urology, Wroclaw Medical University, Wroclaw, Poland. Electronic address: dominika.borselle@umw.edu.pl.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

17

interventional trials for this specific condition

17 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 27 July 2026

17 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.9th percentile).

medium confidence · 93.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

25 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.

"Esophageal atresia" OR "Congenital esophageal atresia" OR "EA/TEF" OR "Esophageal atresia with or without trachea-esophageal fistula" OR "Oesophageal atresia"

Run this search on Europe PMC

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

"Esophageal atresia" OR "Congenital esophageal atresia" OR "EA/TEF" OR "Esophageal atresia with or without trachea-esophageal fistula" OR "Oesophageal atresia"

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: 17 interventional · 25 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

Synonyms dropped by stoplist: CEA

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T16:40:09.951Z