Imperforate anus is a defect that is present from birth (congenital). The opening to the anus is missing or blocked. The anus is the opening to the rectum through which stools leave the body.
Imperforate anus may occur in several forms:
It is caused by abnormal development of the fetus. Many forms of imperforate anus occur with other birth defects.
Symptoms of the problem may include:
A health care provider can diagnose this condition during a physical exam. Imaging tests may be recommended.
The infant should be checked for other problems, such as abnormalities of the genitals, urinary tract, and spine.
Surgery to correct the defect is needed. If the rectum connects with other organs, these organs will also need to be repaired. A temporary colostomy (connecting the end of the large intestine to the abdomen wall so that stool can be collected in a bag) is often needed.
Most defects can successfully be corrected with surgery. Most children with mild defects do very well. However, constipation can be a problem.
Children who have more complex surgeries still have control over their bowel movements most of the time. However, they often need to follow a bowel program. This includes eating high-fiber foods, taking stool softeners, and sometimes using enemas.
Some children may need more surgery.
This problem is often found when the newborn infant is first examined. Call your provider if a child treated for imperforate anus has abdominal pain or fails to develop any bowel control by the age of 3.
There is no known prevention. Parents with a family history of this defect may seek genetic counseling.
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.