$Unique_ID{BRK03767} $Pretitle{} $Title{Gastroschisis} $Subject{Gastroschisis Abdominal Wall Defect Aparoschisis Beckwith-Wiedemann Syndrome Omphalocele Prune Belly Syndrome} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 923: Gastroschisis ** IMPORTANT ** It is possible that the main title of the article (Gastroschisis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Abdominal Wall Defect Aparoschisis Information on the following diseases can be found in the Related Disorders section of this report: Beckwith-Wiedemann Syndrome Omphalocele Prune Belly Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Gastroschisis is a rare congenital disorder in which the patient is born with a defect in the wall of the abdomen. Typically there is a small abdominal cavity with herniated intestines that usually appear on the right outerside of the abdomen. There is no membranous sac covering the intestines and they may be swollen and look shortened due to exposure to the liquid that surrounds the fetus during pregnancy (amniotic fluid). Symptoms Gastroschisis is apparent at birth and can also be detected prenatally with ultrasound. Patients with this disorder have a defect in the abdominal wall in which herniated intestines appear on the outer surface of the abdomen. The abdominal cavity is smaller than normal and there is no membranous sac covering the intestines. This defect is typically found on the right side of the umbilical chord. The intestines are swollen and look short due to exposure to the liquid that surrounds the fetus during pregnancy (amniotic fluid). Other symptoms of this disorder may be: low birth weight; infection; dehydration; dangerously low body temperature (hypothermia); twisted intestines (volvulus) causing obstruction; an area of decay in the small intestines as a result of an interruption in the blood supply to the area or the blockage of a vein (midgut infarction); and/or an abnormal increase in hydrogen in the body from too much acid or the loss of base (metabolic acidosis). Causes The exact cause of Gastroschisis is not known. Several theories have been suggested. One theory is that there is a rupture of an Omphalocele during fetal development. An Omphalocele is similar to Gastroschisis except that there is a membranous sac covering the herniated material at birth. It is thought that the sac may be reabsorbed before birth in the case of Gastroschisis. Another theory is that while the fetus is in the uterus there is some type of accident or dysfunction in the system of tubes that transport body fluid to the region where the umbilical chord enters the fetus (the omphalomesenteric artery). Several cases of Gastroschisis have occurred in siblings which suggests that it may be caused by an autosomal recessive genetic trait in a few cases. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Gastroschisis is a rare disorder that affects males and females in equal numbers. This disorder affects approximately one in every six thousand live births. Related Disorders Symptoms of the following disorders can be similar to those of Gastroschisis. Comparisons may be useful for a differential diagnosis: Beckwith-Wiedemann Syndrome is a rare disorder inherited as an autosomal dominant trait. This disorder has many varied features. In some cases there are few or no symptoms of the disorder. In other cases there may be many severe expressions of the disorder including protrusion of the intestines through the abdominal wall at the base of the umbilical chord (omphalocele), an enlarged tongue, unusually fast growth at birth, unusual facial features, and/or an overproduction of insulin leading to low blood sugar (hypoglycemia). (For more information on this disorder, choose "Beckwith-Wiedemann Syndrome" as your search term in the Rare Disease Database). Omphalocele is a protrusion of internal abdominal organs from a defect in the abdominal wall. The protrusion may be very small with just a few loops of bowel protruding or may contain all of the intestines, the liver and the stomach. Unlike Gastroschisis the organs that are protruding are covered with a membranous sac. It is thought that an Omphalocele and Gastroschisis may be the same disorder but that the omphalocele may rupture during fetal growth thus absorbing the membranous sac. This theory has not been proven to date. Prune Belly Syndrome is a rare disorder characterized by underdevelopment of the abdominal muscles associated with intestinal and urogenital abnormalities. The abdomen appears large and lax, the abdominal wall is thin and the intestinal loops can be seen through the thin abdominal wall. This condition is present at birth. (For more information on this disorder, choose "Prune Belly Syndrome " as your search term in the Rare Disease Database). Therapies: Standard Gastroschisis can be diagnosed before birth using ultrasound. Closure of the defective wall is done as soon as possible after birth. When the abdominal cavity is too small to hold the intestines, a covering of a soft pliable plastic in the shape of a chimney is placed over the protruding area. This covering is reduced in size as the abdominal cavity grows until all of the intestines fit into the cavity. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Gastroschisis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1199-1200. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 768-9. ULTRASONOGRAPHIC ASSESSMENT OF INTESTINAL DAMAGE IN FETUSES WITH GASTROSCHISIS: IS IT OF CLINICAL VALUE? R.R. Lenke, et al.; Am J Obstet Gynecol (September, 1990, issue 163(3)). Pp. 995-8. IS PRIMARY REPAIR OF GASTROSCHISIS AND OMPHALOCELE ALWAYS THE BEST OPERATION: E.R. Sauter, et al.; Am Surg (March, 1991, issue 57(3)). Pp. 142-4. THE EFFECT OF INITIAL OPERATIVE REPAIR ON THE RECOVERY OF INTESTINAL FUNCTION IN GASTROSCHISIS: M.S. Bryant, et al.; Am Surg (April, 1989, issue 55(4)). Pp. 209-11.