Imperforate anus is one of many congenital conditions that can impact how the rectum forms. In normal prenatal development, the lower intestinal system and the urinary system start as one structure and separate during the first trimester of pregnancy.
For unknown reasons, this separation does not happen in children born with imperforate anus, resulting in a variety of possible differences in anatomy, including the urogenital tract.
- A baby’s anal opening may be forward from its normal location and beyond the control of the sphincter muscles.
- The anus may not connect to the rectum.
- There may be no opening where the anus should be.
- The rectum may connect to the urinary system, joining the penis on boys or the vagina on girls.
- In more advanced cases, the bladder and the rectum are connected in a ways that cause problems with the passage of urine and feces.
These anomalies occur in approximately one out of every 5,000 live births. They are closely related to defects of the spine, heart, kidneys, esophagus, pelvis and arm bones—a group of anomalies known as VACTERL syndrome.
Diagnosis for Imperforate Anus
Imperforate anus is usually undetected until after birth when a baby fails to pass stool after feeding or when someone notices an abnormality in the opening to the rectum. In rare cases, imperforate anus may be suggested by a prenatal ultrasound or magnetic resonance imaging (MRI) that shows intestinal blockage and dilation of the intestines.
In mild to intermediate cases, pediatric surgeons reposition the rectum to its proper location or construct one for a child born without an opening. Depending on the circumstances, surgery may be performed between birth and three months of age. If, for example, an infant does not have an opening where the anus should be and there are no other serious birth defects, he or she may have surgery during the first week of life. Surgeons use natural tissue from the body to construct, reconstruct or reposition the anus and rectum where they belong, allowing stool to pass normally.
In more difficult cases, physicians at Riley at IU Health need to fully evaluate a child’s complicated anatomy before choosing a course of treatment. Babies are tested by ultrasound and contrast X-rays of the rectum and urinary system to show anatomy.
If a baby has a complicated anatomy, one of the first surgeries may be an ostomy—a created opening that diverts feces into a bag outside the body by bringing a portion of the intestine to the surface. The creation of an ostomy offers surgeons time to decide the best approach and timeline for repairing the anatomy. We can tend to other more life-threatening conditions, if necessary, and give babies more time to grow before any reconstructive surgery. During this wait, we observe the baby very closely to confirm bodily waste is moving through the intestines to the ostomy normally. We also monitor each child to make sure he/she is thriving.
The most complicated cases may not be treated until a child is at least a year old. Boys may have undescended testes or malformation of the penis. Girls may have an unformed cervix and uterus, or two halves of a uterus that do not form as a whole organ. These babies often require pediatric general surgeons to repair the rectum and intestinal tract, and pediatric urologists to reconstruct genitals and the urinary tract.
Life After Treatment
Outcomes depend on the severity of a child’s condition at birth. In mild cases of imperforate anus, children may have lifelong control of their bowels without assistance.
Children with intermediate abnormalities may take bowel medications to thicken the stool and aid their natural continence. Our highly-skilled dieticians can help children maintain a diet that keeps their stool at an appropriate thickness, allowing it to pass through the colon easily. After your child is old enough to participate in his/her own care and hygiene, enemas may be introduced to help achieve optimal bowel control. Your family’s team of healthcare providers and specialists can work with you to adjust a regimen around age-appropriate goals and individual needs.
For some children and their families, surgery can be the beginning of a lifelong journey. Even after treatment, infants born with significant differences in their anatomies are less likely to have full control of their bowels and bladder when they get beyond the age of toilet training. Specialists at Riley at IU Health often form a very close relationship with families and their children as we help them overcome these challenges and claim a full and normal life. Whatever your child’s circumstances, our expert team is dedicated to restoring a functioning anatomy. We can help children adopt bowel management regimens that improve their quality of life.
In the most severe cases, children may need intensive treatment to lead a normal life, free of worry about fecal soiling. Once children are old enough to assist in their own care, they sometimes benefit from a secondary surgery called the MACE procedure (Malone Antegrade Continence Enema). The MACE procedure allows children to adopt a predictable regimen that keeps them empty during the day by flushing the colon each night. Initially, parents learn to do the flushing of the colon, and eventually, each child learns self-care.
To perform the MACE procedure, surgeons borrow the appendix and construct a tube with access to the colon. The tube is infused with water by way of a catheter, which irrigates the colon below and flushes stool outside the body. This method is used throughout life to give children and their families the ability to live freely and without embarrassment.
If your child is born with imperforate anus, will want you to schedule frequent visits during the early part of his/her life. Once children stabilize with a good regimen of care, those visits may only be necessary once or twice each year or as needed.
Families who come to Riley at IU Health for treatment of imperforate anus and other related anomalies find a well-coordinated healthcare system designed to deliver lifelong support for each child. Our pediatric specialists provide expert reconstructive procedures that help children function well and maintain lifelong cleanliness and continence through follow-up care.
Your family will work with a multidisciplinary team of pediatric colorectal specialists, organized to help you navigate any troublesome times during your child’s development. Your child’s care may also involve psychologists, dieticians, neurosurgeons, gastroenterologists, nephrologists, urologists and other specialists who can tend to every aspect of his/her health and wellness.
Key Points to Remember
Key Points to Remember
- Imperforate anus is a congenital condition that affects the way the rectum forms.
- It is usually not detected until after a baby is born.
- Pediatric surgeons can reconstruct or reposition a baby’s anatomy soon after birth to give babies a more normal anatomy that functions as it should.
- Some children have more complicated anatomies that require careful evaluation and planning before they can receive treatment.
- Outcomes for children vary, depending on the severity and complexity of their anatomies, but pediatric specialists offer many treatment options that allow children to have a good quality of life.
Support Services & Resources
Support Services & Resources
Visit the websites below to learn more about imperforate anus.
This National Institutes of Health program shares basic information about imperforate anus.
This U.S. National Library of Medicine resource explains the link between imperforate anus and VACTERL disorder.