Digestive and Gastrointestinal Conditions

Imperforate Anus and Anorectal Malformations

What is imperforate anus?

Imperforate 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 genital 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 in one place. We also provide second opinions.

The experts you need are here

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.

We treat newborns and older children

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

Your child gets long-term care and support

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. RPM offers a one-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 one 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 two of these problems, doctors say they have VACTRL association (V = vertebral, A = imperforate anus, C = cardiac, T = 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 three of these organs have separate openings to the outside of the body. With cloaca, they share a single opening.