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Anorectal malformations are defects that occur during the fifth to seventh week of fetal development. With these defects, the anus and the rectum do not develop properly. The anus is the opening at the end of the large intestine through which stool passes to leave the body. The rectum is area of the large intestine located just above the anus. The exact cause of anorectal malformations is unknown.
Normally, stool passes from the large intestine to the rectum and then to the anus. Nerves in the anal canal help us sense the need for a bowel movement and stimulate muscle activity. Muscles in this area help control when we have a bowel movement.
With an anorectal malformation, any of the following problems can occur:
Approximately one in 5,000 children are born with an anorectal malformation. It occurs slightly more often in males than in females. This disorder should be immediately diagnosed at birth and correctly treated to achieve the best outcomes.
Depending on the type and severity of the anorectal malformation, several problems can occur:
About 50% of babies with anorectal malformations have other medical conditions. These commonly include:
When a baby is born, the doctor performs a thorough physical exam to check if the anus is open and in the proper position. Tests may also be done to further evaluate a problem and to determine whether other problems are present:
Treatment recommendations will depend on the type of anorectal malformation, the presence and type of other health problems, and the child's overall health. However, most infants with an anorectal malformation will require surgery.
Newborns diagnosed with anorectal malformations may require one or more operations to correct the malformation. Surgeons usually perform surgery to create a colostomy initially. This surgical procedure creates a stoma, an opening on the abdomen through which stool passes.
With a colostomy, the large intestine is divided into two sections, and the ends of the intestine are brought through small openings on the abdominal wall.
The upper section allows stool to pass through the stoma into a collection bag. The second, smaller stoma is called a mucus fistula. The purpose of the mucus fistula is to drain bowel secretions from the bottom portion of the stoma.
Our care team will help parents learn how to take care of the colostomy, and will help them make the transition from the hospital to home. Local and national support groups may also be very helpful. Ask your surgeon or nurse for resources that are available.
Gastroenterology - Pediatric
Urology - Pediatric
Surgery - Pediatric