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$Unique_ID{BRK03886}
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$Title{Jejunal Atresia}
$Subject{Jejunal Atresia Apple Peel Syndrome Christmas Tree Syndrome Duodenal
Atresia Multiple Intestinal Atresia }
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

886:
Jejunal Atresia

** IMPORTANT **
It is possible that the main title of the article (Jejunal Atresia) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Apple Peel Syndrome
     Christmas Tree Syndrome

Information on the following diseases can be found in the Related
Disorders section of this report:

     Duodenal Atresia
     Multiple Intestinal Atresia

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.

Jejunal Atresia is a rare genetic disorder.  Patients with this disorder
are born with a partial absence of the fold of the stomach membrane that
connects the small intestine to the back wall of the abdomen.  As a result,
one of the three portions of the small intestine (the jejunal) twists around
one of the arteries of the colon called the marginal artery and causes a
blockage (atresia).  Symptoms in patients with this disorder are vomiting, a
swollen abdomen and constipation.

Symptoms

Jejunal Atresia is a birth defect in which the patient has a partial absence
of the fold of the stomach membrane that connects the small intestine to the
back wall of the abdomen.  This partial absence causes the portion of the
small intestine (the jejunal) to twist around one of the arteries of the
colon.  The appearance of this condition resembles a Christmas tree or apple
peel.

Symptoms of Jejunal Atresia may be:  vomiting a bitter, yellow-green
secretion of the liver (bile); an expanded or swollen upper middle part of
the abdomen just below the breastbone (epigastric distension); and an absence
of stools after birth.

Causes

Jejunal Atresia may be inherited as an autosomal recessive trait, or it may
occur sporadically with no known cause.  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

Jejunal Atresia is a very rare disorder that affects males and females in
equal numbers.  There have been approximately 57 cases reported in the
medical literature.

Related Disorders

Symptoms of the following disorders can be similar to those of Jejunal
Atresia.  Comparisons may be useful for a differential diagnosis:

Duodenal Atresia is a rare disorder in which there is a blockage of the
normal opening or canal (atresia) in the first division of the small
intestine (duodenum).  There are three types of duodenal atresia.  The first
division of the small intestine (duodenum) may have a discrepancy in size
from one end to the other, the two ends of the duodenum may be connected by a
short chord made of fiber-like tissue or there is no chord connecting the
blind ends.  This malformation in the small intestine causes eighty percent
of the patients to vomit a bitter, yellow-green secretion of the liver
(bile).  Other symptoms of this disorder may be:  a swollen upper abdomen; a
yellowish coloring of the skin (jaundice); and/or in the pregnant mother of
an affected child, an abnormal condition in which there is an excess of fluid
around the fetus.  The obstruction can be repaired with surgery.

Multiple Intestinal Atresia is a rare disorder in which there are
multiple areas of the intestines in which there is an absence of a normal
opening or space which causes an intestinal blockage.  The atresias typically
involve the shortest, widest part of the small intestine that joins the
stomach (duodenum), one of the three portions of the small intestine that
connects with the duodenum (jejunum), or the portion of the small intestine
that opens into the large intestine (ileum), and the rectum.  Infants born
with this condition vomit continually, have swelling just below the breast
bone, a hallow or boat shaped abdomen (scaphoid abdomen), and an empty anal
canal.  In some cases this disorder may be inherited through an autosomal
recessive trait.

Therapies:  Standard

Jejunal Atresia can be determined prenatally by testing the amniotic fluid.
This procedure is suggested in cases where a sibling has been born with the
disorder.

Surgery is performed immediately to repair the intestinal obstruction.
Parenteral nutrition (food given by a vein or directly to the stomach, but
not by mouth) is given for a period of time.

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 that sometimes
malfunction.  It is hoped that this new knowledge will lead to prevention and
treatment of birth defects in the future.

This disease entry is based upon medical information available through
January 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 Jejunal Atresia, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     PEN Parent Education Network
     203 Brookfield Drive
     Straford, WI  54484
     [phone]

     National Digestive Diseases Information Clearinghouse
     P.O. 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. 1281.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 993-4.

FAMILIAL APPLE PEEL JEJUNAL ATRESIA:  SURGICAL, GENETIC, AND RADIOGRAPHIC
ASPECTS:  J.H. Collins, et, al.; Pediatrics (October, 1987, issue 80(4)).
Pp.  540-4.

IDENTICAL TWINS WITH MALROTATION AND TYPE IV JEJUNAL ATRESIA:  L.M. Olson,
et, al.; J Pediatr Surg (November, 1987, issue 22(11)).  Pp. 1015-6.

APPLE PEEL JEJUNAL ATRESIA:  L.S. Ahlgren; J Pediatr Surg (May, 1987,
issue 22(5)).  Pp. 451-3.