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Imperforate Anus and Anorectal Malformations

What is imperforate anus?

The rectum is at the end of the large intestine, where stool (feces) is stored until a bowel movement occurs. The anus is the opening at the end of the rectum on the outside of the body.

Imperforate anus means there is no opening at the end of the digestive tract where the anus normally is. Instead, the digestive tract may end in a closed pouch somewhere inside the body. In some cases, the rectum connects through a channel, called a fistula, to some other body structure or opening. For example, it may connect to the urethra or bladder in boys and the vagina or bladder in girls. Sometimes the fistula comes out on the babies skin in front of where the anus would normally be. This fistula may even come out on the scrotum in some boys. In other cases, the baby has an anus, but it is too narrow to allow waste to come out.

Some children have other problems linked with the way their anus or rectum formed (anorectal malformations). These may include problems with their vertebrae, sacrum, heart, trachea, esophagus, limbs and kidneys. When a baby has more than two of these associated problems, they have what doctors call VACTRL association (V=vertebral, A=imperforate anus, C=cardiac, T=tracheoesophageal fistula, R=renal, L=limb). In some babies the muscles and nerves that control how the anus works may not be properly formed. The severity of these problems can vary widely. The severity of the imperforate anus can be judged in part by the position of the anus or fistula and a few other simple tests, such as an X-ray of the spine.

Girls may have a related condition called cloaca (pronounced cloh-AIK-uh). This means the rectum, bladder and vagina do not form properly and instead join into a common opening. The girl has a single, large opening through which all three of these organs can be found, rather than each having a separate opening on the skin.

Who gets imperforate anus?

Children with imperforate anus (or related anal or rectal problems) are born with this condition. It occurs while the baby is forming inside the mother. Doctors do not know the cause. It affects about 1 in every 5,000 babies.

What are the symptoms?

A baby with no anal opening will not pass any stool, as babies normally do. Or the baby may pass stool (called meconium in a baby) through another opening, like the urethra in boys or vagina in girls. If a baby cannot pass meconium, their belly (abdomen) may become swollen, or distended.

How do you diagnose imperforate anus?

Doctors usually find imperforate anus when they examine a baby right after birth. Then they do imaging tests, such as an X-ray of the abdomen. An ultrasound may also be used in some cases. These tests may show details such as where the rectum ends and whether it connects to another structure. Usually just the physical exam is enough to make the diagnosis. Babies with this condition will eventually need other tests to check for problems with the spine, heart and kidneys.

What is your experience with imperforate anus at Children's?

We have treated many children with anal or rectal malformations at Children's. We see 15 to 25 new children each year with this condition, and we follow many others in our surgery clinics who have undergone operative repair. Our surgeons are experienced at doing the operations these children need, from the least complex to the most complex cases.

When you come to Children's, you have a team of people to care for your child before, during and after surgery. Along with your child's surgeon, you are connected with doctors trained to care for new babies with complex problems (neonatologists), nurses, dietitians, child life specialists, social workers and others. We work together to meet all of your child's health needs and help your family through this experience.

Since 1907, Children's has been treating children only. Our team members are trained in their fields and also in meeting the unique needs of children. For example, the doctors who give your child anesthesia are board certified in pediatric anesthesiology. This means they have extra years of training in how to take care of kids. Our child life specialists know how to help children understand their illnesses and treatments in ways that make sense for their age. Our expertise in pediatrics truly makes a difference for our patients and families.

How do you treat imperforate anus?

Babies with anal or rectal problems need surgery so waste can leave their body properly. The exact surgery depends on the details of your baby's condition. If the rectum ends in a closed pouch very near the normal site of the anus, surgery may be simpler and may be performed within a few days of birth. If the rectum ends higher or if it connects to other body structures, surgery may be quite complex. In these cases, anal repair is usually delayed for a few months, and a colostomy is needed as the first operation. (See below.)

There are three basic goals of surgery:

  • To detach the rectum from other structures, like the urethra, if needed, and repair these structures
  • To create an anus in the normal place on the outside of the body (called perineal anoplasty and pronounced pair-in-EE-ell AIN-oh-plast-ee)
  • To pull the rectum down to the new anus and connect it (called a pull-through operation)

Some babies have this surgery soon after birth. Early surgery is more common if the rectum ends near the normal site of the anus.

Colostomy

Some babies need time to grow before they can have surgery to correct imperforate anus. This allows their rectum and other structures to get bigger so that the important structures are easier to see. While waiting, these babies need a way for solid waste to leave their body. So doctors perform a surgery called a colostomy (pronounced cull-OST-uh-mee).

For a colostomy, doctors create two small openings in the abdomen. Each opening is called a stoma. Then they cut through the intestine. They bring the upper part of the intestine to one stoma and attach it. This allows waste to come out of the body into a pouch attached on the outside. Then they bring the lower part of the intestine to the other stoma. This provides an opening through which to clean the lower intestine. If your child needs a colostomy, you will get step-by-step details about how to care for the stoma, change the pouch and clean the intestine. After a baby has surgery to fix the anus, rectum and related problems, doctors will close the colostomy.

Surgery to fix the anus

Before surgery to fix your baby's anus and related structures, we will give your baby fluids through an IV (short for intravenous) line. A baby who has no anus will not be able to eat, and the IV fluids will provide nutrition.

Your baby will also need a tube that passes through their nose into their stomach (called a nasogastric tube, or NG tube). This tube can be used to keep air out of the stomach so your baby is less likely to vomit.

When it's time for surgery, your child will have general anesthesia. This means we will give your child medicine to make them sleep without pain during the surgery. The length of the surgery can vary depending on how complex it is. The surgeon will explain the steps of your child's surgery and give you an estimate of how long it will take.

After surgery, your child will be in the recovery room for another hour — maybe longer if the surgery was more complex. We will give your child pain medicine to make them comfortable.

The length of the hospital stay will vary depending the severity of the imperforate anus. About two to three weeks after surgery, the surgeon will see your child for a follow-up visit. The surgeon will make sure the incision is healing and your child is recovering well.

Follow-up care

Your child may need follow-up care for many years in the surgery clinic. This includes care at home to help the new anus develop properly. As your child gets older, you may need some special methods to train them to have bowel control. Your child may also need a bowel management plan. This means they may need to use enemas or stool softeners, eat high-fiber foods or take other steps to keep their bowels working well and to prevent "accidents" (incontinence). Some children will need further corrective surgery.

Your child's health-care team will teach you how to manage the care your child needs. Most children develop good bowel control. Having a hard time with bowel movements (constipation) or being incontinent are the most common long-term bowel problem in children who had imperforate anus. Most of these problems can be overcome. Close follow-up with your surgery team is the best way to manage these problems and provide a successful outcome for your child.

Resources

Read more about what to expect when your child visits a clinic at Children's, has surgery here or needs to stay in the hospital. You can get practical details about topics like what to do and bring the day of surgery and who will be on your child's care team. You can also take a virtual tour of our surgery rooms and other parts of the hospital.

To learn more about this condition, you may want to visit our resource list.