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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

95.6th percentile

Trials

17

Interventional, condition-specific

Researchers

1,204

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

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

    12,949 matched papers (6,301 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. autologous adipose-derived mesenchymal stem cells Source

  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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA autologous adipose-derived mesenchymal stem cellsTreatment of oesophageal atresia · 21/04/2023 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

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=3967) is 59.

12,949 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).

6,301 in the last 10 years · medium confidence · 95.6th 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 11 September 2026

17 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.4th percentile).

medium confidence · 94.4th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 Esophageal atresia — 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.

"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