$Unique_ID{BRK03726} $Pretitle{} $Title{Esophageal Atresia and/or Tracheoesophageal Fistula} $Subject{Esophageal Atresia Tracheoesophageal Fistula Atresia of Esophagus Tracheoesophageal Atresia Esophageal Atresia Tracheoesophageal Fistula Tracheoesophageal Fistula Esophageal Atresia VACTERL Association} $Volume{} $Log{} Copyright (C) 1992 National Organization for Rare Disorders, Inc. 930: Esophageal Atresia and/or Tracheoesophageal Fistula ** IMPORTANT ** It is possible that the main title of the article (Esophagus Atresia and/or Tracheoesophageal Fistula) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Atresia of Esophagus with or without Tracheoesophageal Atresia Esophageal Atresia Tracheoesophageal Fistula Tracheoesophageal Fistula with or without Esophageal Atresia Information on the following diseases can be found in the Related Disorders section of this report: VACTERL Association 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. Esophageal Atresia and Tracheoesophageal Fistula are disorders of the esophagus that may be inherited as an autosomal recessive genetic trait, or may result from developmental problems in a fetus. Esophageal Atresia is a condition in which the patient is born with an abnormality in the part of the digestive tube that runs from below the tongue to the stomach (esophagus). This disorder is commonly associated with Tracheoesophageal Fistula which is an abnormal tubelike passage between the windpipe and esophagus. Symptoms of these disorders may be excessive salivation, choking, the return of swallowed food into the mouth, and/or a swollen abdomen when a Tracheoesophageal Fistula is present. Symptoms Esophageal Atresia and Tracheoesophageal Fistula are disorders in which the patient is born with an abnormality in the part of the digestive tube that runs from below the tongue to the stomach (esophagus) and/or an abnormal tubelike passage between the windpipe and esophagus (tracheoesophageal fistula). Typically these disorders occur together but they may also occur alone. Symptoms of these disorders may be excessive salivation, choking, and the return of swallowed food into the mouth. When a tracheoesophageal fistula is present, the abdomen may be swollen due to air passing from the fistula to the stomach. Inflammation of the lung (pneumonitis) may occur due to the return flow of stomach contents through the fistula into the lungs. Lung tissue may collapse (atelectasis) from inhaling saliva and mucous through air passages into the bronchial tubes and lungs (tracheobranchial tree). Infection, dehydration and/or an imbalance of electrolytes (the elements in the blood, tissue and cell fluid needed in correct amounts for the use of energy) may also occur in some patients. Abnormalities of the skeleton, kidney, heart, anus and gastrointestinal tract have been found in some patients with this disorder. Causes Esophageal Atresia and Tracheoesophageal Fistula are disorders that may result from developmental problems of a fetus (with no known cause), or in some cases it can be inherited as an autosomal recessive genetic trait. 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 Esophageal Atresia and Tracheoesophageal Fistula are disorders that affect males and females in equal numbers. Approximately one in every 5,000 live births will be affected with some form of these disorders. Related Disorders Symptoms of the following disorders can be similar to those of Esophageal Atresia and/or Tracheoesophageal Fistula. Comparisons may be useful for a differential diagnosis: VACTERL Association is a very rare combination of developmental abnormalities. VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)tracheo (E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects. These symptoms are present at birth. Symptoms occur in various combinations and can be part of several other disorders. Related disorders such as the VATER Association and REAR Syndrome, which are composed of some of the same symptoms, have been expanded into the VACTERL Association. Nearly all cases have occurred sporadically (cause unknown), although some familial cases have been identified. (For more information on this disorder, choose "Vacterl Association" as your search term in the Rare Disease Database). Therapies: Standard The presence of Esophageal Atresia and Tracheoesophageal Fistula are suspected when an infant has an abnormal amount of saliva, excessive coughing, choking, and/or returns swallowed food. The disorder is detected when a catheter (tube used to remove or return fluid) is unable to pass into the stomach and/or there is air found in the abdomen. Prior to surgical repair oral feedings may be withheld and a tube may be inserted into the upper esophagus to prevent material such as vomit from getting into the lungs and causing aspiration pneumonia. The esophageal atresia and /or fistula can be repaired surgically when the infant is over five and a half pounds, pneumonia free, and there are no other more serious abnormalities. Surgery may require several stages. The fistula may be tied off and an artificial opening into the stomach through the abdomen may be made. A tube is then inserted for feeding. This procedure is called a gastrostomy. An incision is made into the chest wall and the esophageal atresia and/or fistula are repaired. 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 September 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 Esophageal Atresia and/or Tracheoesophageal Fistula, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Diabetes, Digestive and Kidney Disease Information Clearinghouse 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3583 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. 1090-91. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 642-43. NELSON TEXTBOOK OF PEDIATRICS: 14th Ed.; Richard E. Behrman, M.D., Editor: W.B. Saunders Company, 1992. Pp. 474, 940-41. GROWTH AND FEEDING PROBLEMS AFTER REPAIR OF ESOPHAGEAL ATRESIA: J.W. Puntis, et al.; Arch Dis Child (January, 1990, issue 65(1)). Pp. 84-8. PRIMARY REPAIR WITHOUT ROUTINE GASTROSTOMY IS THE TREATMENT OF CHOICE FOR NEONATES WITH ESOPHAGEAL ATRESIA AND TRACHEOESOPHAGEAL FISTULA: D.W. Shaul, et al.; Arch Surg (October, 1989, issue 124(10)). Pp. 188-90. CARE OF INFANTS WITH ESOPHAGEAL ATRESIA, TRACHEOESOPHAGEAL FISTULA, AND ASSOCIATED ANOMALIES: T.M. Holder, et al.; J Thorac Cardiovasc Surg (December, 1987, issue 94(6)). Pp. 828-35.