CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0376/03767.txt

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$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
     [phone]

     National Digestive Diseases Information Clearinghouse
     Box NDDIC
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

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.