What is imperforate anus in children?

Imperforate anus is a problem that your child is born with. It happens when your child has a blocked or missing anus.

The final part of the digestive tract is the rectum. The rectum collects and compacts the solid waste from your child’s digestive tract. During a bowel movement, stool is released from the rectum through the anus.

Before birth, your child’s digestive tract goes through changes as it forms. If something goes wrong during this process, part of the digestive tract may not form the right way. In some cases, this can lead to imperforate anus. In this condition, little or no stool can leave your child’s anus. This is a serious problem because waste products will keep building up in your child’s body.

There are different types of imperforate anus. Your child can have an anus that is missing, very narrow, or blocked by a thin membrane. In some cases, your child’s rectum may not connect to the anus. In other cases, your child’s rectum may connect to the urinary tract or genitals, which it shouldn’t do. In girls, having only one opening for the rectum, bladder, and vagina is a severe type of imperforate anus. This is called a cloaca.

Your child’s healthcare provider may call your child’s imperforate anus low, middle, or high. This depends on the location of the blockage.

Many children with this issue also have problems in other parts of their digestive tract. They may also have issues with other body systems. These can include the heart or nervous or urinary systems. Your child may also need treatment for these problems.

What causes imperforate anus in a child?

Experts aren’t sure what causes this problem. It happens during pregnancy when your child’s digestive tract doesn’t form normally.

Sometimes imperforate anus occurs as a part of a syndrome. These syndromes include other developmental issues. They can include:

• VACTERL syndrome

• CHARGE syndrome

• Currarino syndrome

• Townes-Brocks syndrome

• Pallister-Hall syndrome

Some of these syndromes are linked to problems with certain genes. Many genes may play a role in causing imperforate anus.

Environmental factors may also play a role in this condition. These include exposure to alcohol, substances, or some infections. It isn’t clear which factors raise the risk for this problem.

What are the symptoms of imperforate anus in a child?

Symptoms may include:

• A missing or misplaced anal opening

• Stomach swelling

• Not having bowel movements

Your child may have other symptoms if they also have other health problems.

How is imperforate anus diagnosed in a child?

Your child’s healthcare provider will give them an exam when they are born. The provider will check your child’s anus for issues. They will also check for problems in your child’s other body systems. Your child may also need other tests. These can include:

• X-ray of the region and spine

• Ultrasound of the belly (abdomen) and pelvis, spine, and spinal cord

• MRI

• Colostogram, to check bowel anatomy after initial surgery (colostomy), see below

• Cystourethrogram, to look at the urinary tract

• Echocardiography, to look for heart problems

• Chest X-ray, to rule out problems with the trachea and esophagus

Your child’s healthcare provider will give your child a very detailed checkup. Other issues may be more urgent than the imperforate anus. These problems may need to be treated first.

How is imperforate anus treated in a child?

Children with this issue almost always need surgery. This is usually done in the first few days after birth.

The type of surgery will depend on your child’s condition. A child with a narrow, low imperforate anus may need only one surgery. This surgery gently widens the anus. A child with an intermediate or high imperforate anus may need many surgeries. This is done to rebuild or move the anus.

If your child has a complicated defect, they might first need a colostomy. In this surgery, part of the large intestine is connected to the outside of your child’s body. This gives stool a place to leave the body. Your child will need another surgery after the colostomy.

In most cases, children who have surgery learn how to control their bowel movements at the same age as other children. Your child may have more challenges if their issue is complex, or if the bowel muscles don’t form the right way. Low imperforate anus tends to have fewer later complications than other types of the condition.

Your child is likely to have a better outcome if they have surgery early in life. Your child will need long-term care from a healthcare provider who specializes in these types of issues.

What are possible complications of imperforate anus in a child?

This condition causes constipation in many children. This can happen even in children who had surgery. Laxatives and dietary changes can help.

After surgery, some children will have trouble controlling their bowel movements when they get older. Bowel management programs can be helpful. These programs use scheduled enemas or laxatives to help children have regular, controlled bowel movements. With these programs, most children with severe imperforate anus can have a good quality of life.

If your child has trouble controlling bowel movements, talk with their healthcare provider. The provider can help you with home management and suggest other resources.

Key points about imperforate anus in children

• Imperforate anus is a problem that your child is born with. It happens when your child has a blocked or missing anus.

• The condition often occurs along with other problems. These can include issues with the urinary system or heart.

• Most children with this condition need surgery to fix it.

• In most cases, children who have surgery learn how to control their bowel movements at the same age as other children. Some children may still have issues despite surgery.

• If your child has trouble controlling bowel movements, talk with their healthcare providers. Bowel management programs can help.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

• Know the reason for the visit and what you want to happen.

• Before your visit, write down questions you want answered.

• At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

• Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

• Ask if your child’s condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if your child does not take the medicine or have the test or procedure.

• If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.