Anorectal malformations are birth defects, or problems that happen as an unborn baby is developing during pregnancy. With this defect, the anus and rectum don’t develop properly. They are the lower part of the digestive tract.
Normally during a bowel movement, stool passes from the large intestine to the rectum and then to the anus. Muscles in the anal area help to control when you have a bowel movement. Nerves in the area help the muscles sense the need for a bowel movement. The nerves also stimulate muscle activity.
With an anorectal malformation, several problems can occur. These include:
Anorectal malformations cause problems with how a child has a bowel movement. Treatment depends on which type of problem your baby has.
As an unborn baby is growing in its mother's womb or uterus, different organ systems are developing and maturing. The lower end of the intestinal tract forms fairly early in pregnancy.
In an unborn baby, the lower part of the large intestine and the urinary tract start off as one large mass of cells. Certain steps must happen in the first 3 months of pregnancy or gestation. These steps are needed for the rectum and anus to break away from the urinary tract and form properly. Sometimes these steps don’t happen as they should. Then the rectum or anus may not develop normally. In most cases, it’s not known what causes this to happen.
Anorectal malformation may be seen with some genetic syndromes or congenital problems that are present at birth. These include:
Anorectal malformations cause problems with how a child has a bowel movement. Most anorectal malformations are found before a newborn leaves the hospital. If the problem is not found in the hospital, symptoms may include:
Your child's healthcare provider will do a physical exam when your baby is born. The provider will look at your child’s anus to see if it is open. Your child may also have imaging tests such as:
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.
Most babies with anorectal malformation will need to have surgery to correct the problem. The type and number of surgeries your child needs will vary. It depends on the type of problem your child has. These problems include the following:
Surgery may not be needed. A procedure known as anal dilation may be done from time to time. This helps to stretch the anal muscles so stool can pass through.
Surgery is done to remove the membrane. Anal dilations may need to be done to help with any narrowing of the anal passage.
A series of surgeries is done to repair the problem. These surgeries include:
You can start toilet training at the usual age, when your child is between 2 and 3 years old. But a child who has had an anorectal malformation repaired may be slower than others to gain bowel control. Your child may not have good control over bowel movements. Or your child may have long-term (chronic) constipation. This depends on the type of malformation and its repair. Your child's healthcare provider can explain the outlook for your child.
An anorectal malformation can cause problems in the way your child has a bowel movement. These problems will vary depending on the type of malformation your child has. These include:
Sometimes children are able to gain good control over their bowel movements after the problem is repaired. This is often the case for children with an anal membrane or a narrow anal passage.
If your child has a more complex type of anorectal malformation, he or she may need to take part in a bowel management program. This can help your child have control bowel movements and prevent constipation. The nurses and other healthcare professionals who work with your child's provider can help create a program for your child.
Call your child’s healthcare provider right away if an anorectal malformation was not found in the hospital but your child:
If your baby does not pass stool, it is a medical emergency. You should seek medical care right away.
Tips to help you get the most from a visit to your child’s healthcare provider: