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Disease Profile

Gastroschisis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital fissure of the abdominal cavity; Laparoschisis

Categories

Congenital and Genetic Diseases; Digestive Diseases

Summary

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]

Symptoms

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.

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

Learn more

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

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Gastroschisis. This website is maintained by the National Library of Medicine.
  • 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.

References

  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.