$Unique_ID{BRK03886} $Pretitle{} $Title{Jejunal Atresia} $Subject{Jejunal Atresia Apple Peel Syndrome Christmas Tree Syndrome Duodenal Atresia Multiple Intestinal Atresia } $Volume{} $Log{} 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 (203) 746-6518 PEN Parent Education Network 203 Brookfield Drive Straford, WI 54484 (715) 687-4551 National Digestive Diseases Information Clearinghouse P.O. 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. 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.