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gastroschisis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

gastroschisis

MONDO:0009264

Also known as:eventrationlaparoschisisabdominal wall defects

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Overview

Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.

GeneticsAutosomal recessive, Multifactorial

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials9 registered · 5 recruiting

Clinical Presentation

Features include: Gastroschisis and Abdominal wall defect.

Organ System	Phenotype Count	Example Features
Digestive system	2	Gastroschisis, Abdominal wall defect

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Diagnosis

Biomarker and diagnostic research for gastroschisis has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for gastroschisis. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for gastroschisis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for gastroschisis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Estimated prevalence: 1-5 in 10,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

9 clinical trials registered, 5 recruiting. Interventions under study include other interventions, procedural interventions, medical devices, and gene therapy. Pipeline includes 4 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06731855](https://clinicaltrials.gov/study/NCT06731855)

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:230750

Orphanet

European rare disease database

Orphanet:2368

GARD

Genetic and Rare Diseases Info Center

GARD:8661

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 9 active clinical trials a good fit for my situation?
→What is the current development status of Lactobacillus reuteri, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Disease patterns and progression	48	47%
Research summaries	31	30%
Patient case studies	7	7%
Laboratory research	7	7%
Testing and diagnosis research	4	4%
Clinical study results	4	4%
Other research	1	1%

Kisho

gastroschisis

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

GAIN: a multicenter pilot protocol for early initiation of enteral feeds in neonates with simple gastroschisis.

Continued increase in birth defect of abdominal wall - Press Release

gastroschisis

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

Latest News & Developments

GAIN: a multicenter pilot protocol for early initiation of enteral feeds in neonates with simple gastroschisis.

Continued increase in birth defect of abdominal wall - Press Release