Gastroschisis

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ORPHA:2368OMIM:230750Q79.3
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5Active trials43Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Gastroschisis is a congenital abdominal wall defect in which the intestines (and occasionally other abdominal organs) protrude through an opening in the abdominal wall, typically located to the right of the umbilical cord insertion. Unlike omphalocele, the herniated organs in gastroschisis are not covered by a protective membrane, leaving them directly exposed to amniotic fluid during fetal development. This exposure can lead to inflammation, thickening, and damage to the bowel. The condition is usually detected prenatally through routine ultrasound screening and is apparent at birth. The primary body system affected is the gastrointestinal tract. Key clinical features include evisceration of bowel loops through the abdominal wall defect, intestinal inflammation and matting due to amniotic fluid exposure, and potential complications such as intestinal atresia, volvulus, or necrotizing enterocolitis. Affected newborns are at risk for significant fluid loss, hypothermia, and infection. Feeding difficulties and prolonged intestinal dysmotility are common postoperative challenges. Treatment is surgical and is required shortly after birth. The two main approaches are primary closure, in which the herniated organs are returned to the abdominal cavity and the defect is closed in a single operation, and staged closure using a silo (a temporary protective covering) that gradually reduces the organs back into the abdomen over several days before definitive closure. Advances in neonatal intensive care and surgical techniques have significantly improved survival rates, which now exceed 90% in high-resource settings. Long-term outcomes are generally favorable, though some children may experience prolonged feeding difficulties or intestinal complications. The exact cause of gastroschisis remains unclear, but it is considered multifactorial, with young maternal age, low body mass index, smoking, and vasoactive substance exposure identified as risk factors.

Also known as:

Clinical phenotype terms— hover any for plain English:

GastroschisisHP:0001543Abnormality of the umbilical cordHP:0010881Elevated maternal circulating alpha-fetoprotein concentrationHP:0011432Abnormal fetal gastrointestinal system morphologyHP:0034207VolvulusHP:0002580Intestinal atresiaHP:0011100Intestinal perforationHP:0031368Abnormal mesentery morphologyHP:0100016
Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

6 events
Jun 2025MEGA STUDY - Multicenter Evaluation of Gastroschisis Anomaly Study

ResearchSkills

TrialACTIVE NOT RECRUITING
May 2025Short- and Long-term Effects of Robot-assisted Plication in Diaphragmatic Paralysis

Uppsala County Council, Sweden

TrialNOT YET RECRUITING
Feb 2025Early Feeds in Gastroschisis

University of California, Davis — NA

TrialRECRUITING
Oct 2023Fetal Repair of Complex Gastroschisis: A Safety and Feasibility Trial

Baylor College of Medicine — NA

TrialRECRUITING
Feb 2018Gastroschisis Outcomes of Delivery (GOOD) Study

Medical College of Wisconsin — NA

TrialRECRUITING
Oct 2017Oral Care in Infants With Gastroschisis

Baylor College of Medicine

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Gastroschisis.

5 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

5 recruitingView all trials with filters →
N/A3 trials
Early Feeds in Gastroschisis
N/A
Actively Recruiting
PI: Nicole Cacho, DO (University of California, Davis) · Sites: Los Angeles, California; Sacramento, California · Age: 01 yrs
Fetal Repair of Complex Gastroschisis: A Safety and Feasibility Trial
N/A
Actively Recruiting
PI: Sundeep Keswani, MD (Baylor College of Medicine and Texas Children's Ho) · Sites: Houston, Texas · Age: 1899 yrs
Gastroschisis Outcomes of Delivery (GOOD) Study
N/A
Actively Recruiting
PI: Amy Wagner, MD (Medical College of Wisconsin) · Sites: Phoenix, Arizona; Loma Linda, California +36 more · Age: 1899 yrs
Other2 trials
MEGA STUDY - Multicenter Evaluation of Gastroschisis Anomaly Study
Active
PI: Renata Jaczyńska, PhD (Uniwersyteckie Centrum Kliniczne Warszawskiego Uni) · Sites: Katowice; Poznan +7 more
Oral Care in Infants With Gastroschisis
Active
PI: Amy B Hair, MD (Baylor College of Medicine) · Sites: Houston, Texas

Specialists

Showing 25 of 43View all specialists →
RP
Renata Jaczyńska, PhD
Specialist
PI on 1 active trial
AM
Amy B Hair, MD
HOUSTON, TX
Specialist
PI on 2 active trials1 Gastroschisis publication
MM
Mark A Underwood, MD
Specialist
PI on 1 active trial
SM
Sundeep Keswani, MD
HOUSTON, TX
Specialist
PI on 1 active trial
AM
Amy Wagner, MD
Specialist
PI on 1 active trial1 Gastroschisis publication
ND
Nicole Cacho, DO
GAINESVILLE, FL
Specialist
PI on 1 active trial19 Gastroschisis publications
GM
Geoanna Bautista, MD
SACRAMENTO, CA
Specialist
PI on 1 active trial1 Gastroschisis publication
NP
Nick Lansdale, MB FRCS PhD
Specialist
PI on 1 active trial
OM
Obinna O Adibe, MD, MHS
DURHAM, NC
Specialist
PI on 1 active trial
LR
Liliam Cristine Rolo
Specialist
1 Gastroschisis publication
RM
Russell J Merritt
LOS ANGELES, CA
Specialist
1 Gastroschisis publication
JM
Jarod McAteer
SPOKANE, WA
Specialist
1 Gastroschisis publication
MS
Mark B Slidell
BALTIMORE, MD
Specialist
1 Gastroschisis publication
SS
Stig Sømme
Specialist
1 Gastroschisis publication
RR
Rodrigo Ruano
MIAMI, FL
Specialist
1 Gastroschisis publication
TM
Thalita Diógenes Muniz
Specialist
1 Gastroschisis publication
LR
Lelia Luanne Gonçalves Ramos
Specialist
1 Gastroschisis publication
EJ
Edward Araujo Júnior
Specialist
1 Gastroschisis publication
LM
Luca Brunelli, MD
BOZEMAN, MT
Specialist
PI on 1 active trial1 Gastroschisis publication
MP
Merrill McHoney, PhD
Specialist
PI on 1 active trial
JM
Janette F Strasburger, MD
MILWAUKEE, WI
Specialist
PI on 1 active trial
MM
Mark Weems, MD
ADA, OK
Specialist
PI on 2 active trials
NM
Nelson Piché, MD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Gastroschisis.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Gastroschisis

Disease timeline:

New recruiting trial: Gastroschisis Outcomes of Delivery (GOOD) Study

A new clinical trial is recruiting patients for Gastroschisis

New recruiting trial: Early Feeds in Gastroschisis

A new clinical trial is recruiting patients for Gastroschisis

New recruiting trial: Fetal Repair of Complex Gastroschisis: A Safety and Feasibility Trial

A new clinical trial is recruiting patients for Gastroschisis

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Gastroschisis

What is Gastroschisis?

Gastroschisis is a congenital abdominal wall defect in which the intestines (and occasionally other abdominal organs) protrude through an opening in the abdominal wall, typically located to the right of the umbilical cord insertion. Unlike omphalocele, the herniated organs in gastroschisis are not covered by a protective membrane, leaving them directly exposed to amniotic fluid during fetal development. This exposure can lead to inflammation, thickening, and damage to the bowel. The condition is usually detected prenatally through routine ultrasound screening and is apparent at birth. The pri

How is Gastroschisis inherited?

Gastroschisis follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Gastroschisis typically begin?

Typical onset of Gastroschisis is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for Gastroschisis?

Yes — 5 recruiting clinical trials are currently listed for Gastroschisis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Gastroschisis?

25 specialists and care centers treating Gastroschisis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.