National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gastroschisis


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Other Names:
Congenital fissure of the abdominal cavity; Laparoschisis
Categories:
This disease is grouped under:

Gastroschisis is a birth defect that occurs when a baby's intestines extend outside of the body through a hole next to the belly button. This type of defect is known as an abdominal wall defect. Sometimes other organs are also involved.[1][2]   The exact cause of a gastroschisis is usually not known, but it is more common in babies born to young mothers or to mothers who may have used alcohol or tobacco during their pregnancies.[1][2][3] Gastroschisis is typically diagnosed on routine ultrasound examinations before a baby is born. These babies may need to be born in hospitals with specialists who are experienced in treating gastroschisis. Treatment includes a special kind of surgery that gradually returns the intestines to the abdomen (silo repair).[1][2][4] Prognosis depends primarily on the degree of injury to the bowel, and on the presence of other birth defects. Though long-term outcomes for babies born with simple gastroschisis are generally good, some children may have problems with digestion later in life.[4]

Complications from gastroschisis can include intestinal problems, breathing difficulties, and infection.[1][2] Some cases of gastroschisis may resolve in utero, with closure of the hole of the abdominal wall, resulting in strangulation and destruction of the herniated bowel (vanishing gastroschisis or vanishing gut syndrome), and very short-bowel syndrome.[5] Other complications include incomplete bowel (atresia), destruction (necrosis), perforation or twisting (volvulos). The prognosis of these cases is poor, but detecting these problems during pregnancy (antenatal diagnosis) and having fetal intervention may improve the outcome in the future.[6]
Last updated: 11/21/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Gastroschisis 0001543
30%-79% of people have these symptoms
Intestinal atresia 0011100
5%-29% of people have these symptoms
Abnormality of mesentery morphology 0100016
Percent of people who have these symptoms is not available through HPO
Abdominal wall defect 0010866
Autosomal recessive inheritance 0000007
Multifactorial inheritance 0001426
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include omphalocele (see this term), which is more frequent and associated with other malformations.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Gastroschisis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Gastroschisis. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gastroschisis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.


  1. Mastroiacovo P, Lisi A, Castilla EE, Martínez-Frías ML, Bermejo E, Marengo L, Kucik J, Siffel C, Halliday J, Gatt M, Annerèn G, Bianchi F, Canessa MA, Danderfer R, de Walle H, Harris J, Li Z, Lowry RB, McDonell R, Merlob P, Metneki J, Mutchinick O, Robert-Gnansia E, Scarano G, Sipek A, Pötzsch S, Szabova E, and Yevtushok L. Gastroschisis and associated defects: An international study. American Journal of Medical Genetics. April 1 2007; 143A(7):600-671. https://www.ncbi.nlm.nih.gov/pubmed/17357116.
  2. Prefumo F and Izzi C. Fetal abdominal wall defects. Best Practice and Research Clinical Obstetrics and Gynaecology. April 2014; 28(3):391-402. https://www.ncbi.nlm.nih.gov/pubmed/24342556.
  3. Torfs CP and Curry CJ. Familial cases of gastroschisis in a population-based registry. American Journal of Medical Genetics. 45(4):465-467. https://www.ncbi.nlm.nih.gov/pubmed/8465852.
  4. Lepigeon K, Van Mieghem T, Vasseur Maurer S, Giannoni E, and Baud D. Gastroschisis – what should be told to parents. Prenatal Diagnosis. April 2014; 34(4):316-26. https://www.ncbi.nlm.nih.gov/pubmed/24375446.
  5. Dennison FA. Closed gastroschisis, vanishing midgut and extreme short bowel syndrome: Case report and review of the literature. Ultrasound. August, 2016; 24(3):170-174. https://www.ncbi.nlm.nih.gov/pubmed/27867410.
  6. Marinovic VM, Lukac M, Mikovic Z, Grujic B, Milickovic M, Samardzija G, Stojanovic A & Sabbagh D. Outcome differences between simple and complex gastroschisis. Ann Ital Chir. October 14, 2016; 87:pii: S0003469X16025926. https://www.ncbi.nlm.nih.gov/pubmed/27845942.