Digestive and Gastrointestinal Conditions

Imperforate Anus and Anorectal Malformations

What is imperforate anus?

Imperforate (pronounced im-PURR-for-ate) anus means there is no opening at the end of the digestive tract where the anus normally is. This condition can take several forms:

  • The digestive tract may end in a closed pouch somewhere inside the body. This may be close to the skin near the normal site of the anus, or it may be higher up in the belly.
  • The rectum (the end of the large intestine before the anus) may connect to the skin in front of where the anus normally is. It connects through a channel called a fistula.
  • The rectum may connect to other parts of the body through a fistula. For example, in boys, the rectum may connect to the urethra, bladder or scrotum. In girls, it may connect to the vagina or urinary tract.

In some babies with imperforate anus, the muscles and nerves that control the anus do not form properly.

Some babies have an anus, but it is too narrow to allow stool (feces) out.

All of these problems with the way a baby’s anus or rectum formed are called anorectal malformations.

Imperforate Anus and Anorectal Malformations at Seattle Children’s

Anorectal malformation isn’t common, so most doctors see few children with this condition. Seattle Children’s treats many children each year with a wide range of malformations. We see patients from newborns who need urgent surgery to young adults who need long-term follow-up. Our team has extensive experience and can provide all aspects of your child’s care. We also provide second opinions.

  • Care for imperforate anus requires expertise to diagnose the condition, perform complex surgery and provide follow-up care to keep your child healthy for life. Seattle Children’s has this expertise.

    Your child will receive care from an expert on our Reconstructive Pelvic Medicine (RPM) team and from our Motility Program. RPM brings together providers from many specialties to treat your whole child. Based on your child’s needs, the specialists may include a surgeon, urologist, gynecologist, gastroenterologist, pathologist or radiologist. Our nurses and nurse practitioners will work closely with you and the rest of the team to meet your child’s needs.

    Each child’s case is unique. Team members partner closely with each other and with you to develop the best treatment plan for your child.

  • At Seattle Children’s, we see patients from birth through young adulthood. Many of our patients with imperforate anus first come to us as newborns. Older infants and children also come for diagnosis, surgery and post-surgery care.

    Often, newborns are referred from their birth center because a malformation is seen right away. After your baby is born, they can be transferred to Seattle Children’s Level IV Neonatal Intensive Care Unit (NICU), where they’ll receive the highest level of care. Seattle Children’s had the first Level IV NICU in Washington.

    We also see many babies and children at any age who:

    • Have symptoms but haven’t been diagnosed yet because their malformation is not obvious
    • Have been diagnosed and need surgery
    • Had surgery somewhere else for this condition and have moved to the Northwest, want to change doctors or want a second opinion about the best treatment for them

  • Surgery corrects the malformation, and it may allow your child to develop good bowel control. Despite surgery, some children have poor bowel control due to factors like:

    • The type of malformation
    • Whether the child also has problems with the spine
    • How well the pelvic muscles developed

    Seattle Children’s provides follow-up care to monitor your child’s health, prevent problems, manage symptoms and give your child the best quality of life.

    For children with imperforate anus, bowel problems like constipation are not treated the same as for children without this condition. This is why it’s important to get long-term care from experts. Your child’s team at Seattle Children’s has the expertise to treat problems that could arise after surgery, and we’re dedicated to giving your child the best possible care.

    We understand how a child might feel about dealing with imperforate anus or related problems, and we are careful to take your child’s feelings into account.

    For support, you have access to social workers, child life specialists and many others. Our Reconstructive Pelvic Medicine (RPM) team offers a 1-week Bowel Management Treatment Program for children who are old enough for toilet training and have trouble with bowel control after surgery.

Imperforate Anus in Children

Children with imperforate anus and related anal or rectal problems are born with these conditions. Anorectal malformation affects about 1 in every 5,000 babies. It occurs while the baby is forming inside the mother. Doctors do not know the cause.

  • Some babies with imperforate anus have other problems that are linked with this condition. These may include problems with:

    • The bones that make up the spine (vertebrae and sacrum, just above the tailbone)
    • The heart
    • The windpipe (trachea)
    • The tube that connects the mouth to the stomach (esophagus)
    • The kidneys and bladder
    • The arms and legs

    When a baby has more than 2 of these problems, doctors say they have VACTERL association (V = vertebral, A = imperforate anus, C = cardiac, TE = tracheoesophageal fistula, R = renal, L = limb).

    Girls may have a related condition called cloaca. This means the rectum, bladder and vagina do not form properly. Normally, all 3 of these organs have separate openings to the outside of the body. With cloaca, they share a single opening.

Symptoms of Imperforate Anus

Signs and symptoms of imperforate anus include:

  • No passage of stool within a day or 2 of birth
  • Passing stool through another opening, like the urethra in boys or vagina in girls
  • Swollen belly
  • Opening to the anus missing or not in the usual place (in girls, this may be near the vagina)

Diagnosing Imperforate Anus

  • Doctors usually find imperforate anus when they examine a baby right after birth. Usually, a physical exam is enough for doctors to make the diagnosis. An exam also helps doctors determine the severity.

    They will check the area around your baby’s bottom and genitals for normal openings and for signs of imperforate anus and linked problems. They may also check to see if they can find a baby’s first stool (meconium) and tell where it is located.

  • Your baby’s doctor may ask for some imaging tests:

    • X-ray of the belly and lower spine (sacrum)
    • Ultrasound

    These tests can show important details, such as where the rectum ends and whether it connects to another structure, helping your baby’s doctor understand what surgery and follow-up care are best.

  • Anorectal malformations vary greatly from child to child. How severe the problems are depends on:

    • How far your baby’s digestive tract extends. If the rectum reaches nearly to the normal site of the anus, the problem may be easier to repair.
    • How much the nearby muscles are affected.
    • Whether a channel connects the rectum to the urinary tract in boys or the genitals in girls. If it does, surgeons will need to repair the channel.

    If your baby is diagnosed with imperforate anus, they will need other tests later on to check for problems with the spine, heart and kidneys.

Treating Imperforate Anus

Babies with anorectal malformations need surgery, regular follow-up visits and sometimes other treatment. At Seattle Children’s, our surgeons partner closely with other experts from Reconstructive Pelvic Medicine (RPM) to provide your child’s care. If your child has other related problems, like problems with their urinary tract or genitals, a team of specialists will work together to meet your child’s needs.

After your baby is born, they can be transferred to Seattle Children’s Level IV Neonatal Intensive Care Unit (NICU), where they’ll receive the highest level of care.

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

Your baby will also need a tube that passes through the nose into the stomach (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.

  • Your baby will need surgery so stool can leave their body properly. Your baby may also need surgery to repair channels that connect their rectum to other body structures, such as the urinary or genital tract.

    The type and number of surgeries depend on your baby’s condition. For example, surgery may be less complex if the rectum ends at the skin very near the normal site of the anus. In this case, your baby may need a single operation within a few days after birth. Surgery may be more complex if the rectum ends higher or connects to other structures. In this case, your baby will need other operations before anal repair.

    There are 3 basic goals of surgery for imperforate anus:

    • To detach the rectum from other structures and to repair these structures, if needed
    • To create an anus in the normal place (anoplasty)
    • To pull the rectum down to the new anus and connect it

    We will give your child medicine to make them sleep without pain during the surgery (general anesthesia). The length of the surgery depends on how complex the surgery is. Your baby’s surgeon will explain what type of surgery your baby needs and how long it will take.

  • Some babies need time to grow before they can have surgery to correct a complex malformation. This makes surgery easier and safer for your baby. While waiting, these babies need a way for stool to leave their bodies, so surgeons perform an operation called a colostomy.

    Surgeons make 2 small openings in the child’s belly. Each opening is called a stoma. Then, they cut through the intestines and attach the ends of the intestines to the openings. One opening lets stool (feces) pass to a pouch attached on the outside of the body. The other opening lets out normal mucus made in the intestine.

    If your child needs a colostomy, you will get step-by-step details about how to care for the stoma and change the pouch. In most cases, the colostomy is temporary.

  • After surgery for imperforate anus, we will give your child pain medicine to make them comfortable. The length of your baby’s hospital stay after surgery will depend on how complex their problem is. Usually, children who do not have other health problems stay 5 to 7 days.

    The surgery team will teach you how to care for incisions, how to feed and bathe your child and what to watch for when your child goes home from the hospital.

  • About 2 to 3 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.

    At the first follow-up visit, the surgeon will perform anorectal dilation and teach you how to do it at home. Dilation means passing a very small, smooth rod into the baby’s anus to gently stretch the opening. This procedure keeps your baby’s new anus from getting too narrow as it heals. Your baby will need dilation every day for several weeks to help prepare for the surgeon to close the colostomy. We will make sure you are comfortable with how to do it at home.

  • Both before and after surgery, your child will have a team of specialists, like urologists, gynecologists and gastroenterologists, to plan and provide their care. As your child recovers from surgery, the team will continue working together to understand and meet your child’s needs – not only in the early days and weeks, but also as your child gets older.

    After surgery and dilation, most children develop good bowel control. But most will have some bowel problems – like constipation or fecal incontinence (“accidents”) – off and on throughout their lives. Ongoing care from an expert team can help with these problems.

    Monitoring your child: Infant to college age

    Our goal is to follow your child until they reach college age to help ensure they are healthy and living to their full potential. The Reconstructive Pelvic Medicine (RPM) team at Seattle Children’s works to monitor and treat problems related to imperforate anus in babies, children, teens and young adults even after surgery.

    Your child will need to come back for follow-up visits on a regular basis to check their health. If your child is doing well, these visits may happen only once a year. If your child is having any bowel or other problems, we may see them more often for a while to provide treatment.

  • For bowel problems that might happen after surgery, we offer a range of treatment options, including:

    • Using medicines and changing your child’s diet, activity level and toilet habits to reduce constipation or incontinence
    • Using biofeedback to help your child learn to use their new anus
    • Using devices to stimulate the nerves in the intestines
    • Taking part in our 1-week Bowel Management Treatment Program
    • Having another surgery to improve bowel control, if needed

    Our treatment approach is tailored to your child’s and family’s needs.

Contact Us

Call the Reconstructive Pelvic Medicine Program at 206-987-6683 to request an appointment, a second opinion or more information.