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ORPHA:2368

Gastroschisis

medium confidenceDisorder

Also known as: Laparoschisis

Publications

6,769

96.4th percentile

Trials

22

Interventional, condition-specific

Researchers

1,124

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare abdominal wall characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.

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)

gastroschisis · laparoschisis

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

    6,769 matched papers (3,229 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

    22 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?

6,769

6,769 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.

6,769 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).

3,229 in the last 10 years · medium confidence · 96.4th percentile (publications denominator)

Phrase hits: 6,769 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,124

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
    Araujo Júnior E7 papers · 2026

    Obstetrics, Universidade Federal de Sao Paulo Escola Paulista de Medicina, Sao Paulo, Brazil.

    Papers in Europe PMC
  2. 02
    Rolo LC6 papers · 2026

    Obstetrics, Universidade Federal de Sao Paulo Escola Paulista de Medicina, Sao Paulo, Brazil.

    Papers in Europe PMC
  3. 03
    Wagner AJ6 papers · 2026

    Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  4. 04
    Anderson JE5 papers · 2026

    Department of Surgery, University of California Davis Medical Center, 2335 Stockton Blvd, Room 5107, Sacramento, CA, 95817, USA.

    Papers in Europe PMC
  5. 05
    Ade-Ajayi N4 papers · 2026

    Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London SE5 9RS, UK.

    Papers in Europe PMC
  6. 06
    Arai T4 papers · 2026

    My FetUZ Fetal Research Center, Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  7. 07
    Bautista GM4 papers · 2026

    Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, 95817, USA. Electronic address: gmbautista@health.ucdavis.edu.

    Papers in Europe PMC
  8. 08
    Calkins KL4 papers · 2026

    Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  9. 09
    De Coppi P4 papers · 2026

    My FetUZ Fetal Research Center, Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  10. 10
    Deprest J4 papers · 2026

    My FetUZ Fetal Research Center, Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

22

interventional trials for this specific condition

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

Data as of 27 July 2026

22 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.8th percentile).

medium confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

14 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.

"Gastroschisis" OR "Laparoschisis"

Run this search on Europe PMC

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

"Gastroschisis" OR "Laparoschisis"

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: 22 interventional · 14 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T19:58:18.290Z