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$Unique_ID{BRK03478}
$Pretitle{}
$Title{Anus, Imperforate}
$Subject{Anus, Imperforate Anal Atresia Anal Membrane Anal Stenosis Anorectal
Malformations Ectopic Anus High Imperforate Anus Low Imperforate Anus Perineal
Anus Rectoperineal Fistula Colon Atresia (Colon Stenosis)}
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
629
Anus, Imperforate
** IMPORTANT **
It is possible that the main title of this article (Imperforate Anus) is
not the name you expected. Please check the SYNONYM list to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Anal Atresia
Anal Membrane
Anal Stenosis
Anorectal Malformations
Ectopic Anus
High Imperforate Anus
Low Imperforate Anus
Perineal Anus
Rectoperineal Fistula
Information on the following disorder can be found in the Related
Disorders section of this report:
Colon Atresia (Colon Stenosis)
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 physician and/or the agencies listed in the "Resources" section
of this report.
Imperforate Anus is a rare inborn abnormality characterized by the
absence or abnormal localization of the anus. The rectum or the colon may be
connected to the vagina or the bladder by a tunnel (fistula). With surgical
correction, normal elimination can become possible.
Symptoms
Imperforate Anus is an abnormality present at birth, and characterized by the
absence of the normal opening of the anus. Elimination of feces may not be
possible until surgery is performed. In some cases the rectum opens into the
lower part of the vagina in females, or close to the scrotum in males.
Causes
Imperforate Anus may be either inherited through autosomal recessive or
through X-linked genes.
Human traits, including the classic genetic diseases, are the product of
the interaction of two genes for that condition, 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 a
person receives one normal gene and one gene for the disease, he or she will
be a carrier for the disease, but usually will show no symptoms. The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is 25 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.
X-linked recessive disorders are conditions which are coded on the X
chromosome. Females have two X chromosomes, but males have one X chromosome
and one Y chromosome. Therefore in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome. Since
males only have one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed. Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a 50 percent risk of
transmitting the carrier condition to their daughters, and a 50 percent risk
of transmitting the disease to their sons.
Affected Population
Imperforate Anus occurs in approximately 1 in 5,000 births in the United
States. It affects males and females in a ratio of six to four.
Related Disorders
Symptoms of the following disorder can be similar to those of Imperforate
Anus. Comparisons may be useful for a differential diagnosis:
Colon Atresia (Colon Stenosis) is a hereditary disorder characterized by
closure or excessive narrowing of the lower intestines with distention of the
abdomen and constipation. The closure may not be noticed at birth.
Abnormalities of the bladder, abdominal wall, pubic area and rectum may occur
as associated symptoms. Surgery may correct the abnormality and provide a
normal sized opening.
Therapies: Standard
Imperforate Anus is surgically corrected by dilating, enlarging or
repositioning the external opening, or other ways of providing an adequate
rectal opening. Genetic counseling may be of benefit to patients and their
families.
Therapies: Investigational
This disease entry is based upon medical information available through
April 1989. 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 Imperforate Anus, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Imperforate Anus Contact Group
55 Peverell Road
Bowthorpe, Norwich, Norfolk
ENGLAND
National Digestive Diseases Information Clearinghouse
Box NDIC
Bethesda, MD 20892
(301) 468-2162
United Ostomy Association, Inc.
36 Executive Park, Suite 120
Irvine, CA 97214
(714) 660-8624
For genetic information and genetic counseling referrals, please contact:
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
THE GENITAL TRACT IN FEMALE CHILDREN WITH IMPERFORATE ANUS: R. Hall, et al.;
American Journal Obstet Gynecol (January 15, 1985: issue 151(2)). Pp. 169-
171.
IMPERFORATE ANUS WITH LONG BUT APPARENT LOW FISTULA IN FEMALES: F.G.
Cigerroa, et al.; Journal Pediatr Surg (January 1988: issue 23(1 Pt 2)).
Pp. 42-44.
THE GENITOURINARY SYSTEM IN PATIENTS WITH IMPERFORATE ANUS: G.A.
McLorie, et al.; Journal Pediatr Surg (December 1987: issue 22(12)). Pp.
1100-1104.