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$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.