Anorectal malformation; Anal atresia
Imperforate anus is a defect in which the opening to the anus is missing or blocked. The anus is the opening to the rectum through which stools leave the body. This is present from birth (congenital).
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 ordered.
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:
There is no known prevention. Parents with a family history of this defect may seek genetic counseling.
Dingelsein M. Selected gastrointestinal anomalies in the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 84.
Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Surgical conditions of the anus and rectum. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 371.BACK TO TOP
Review Date: 4/14/2021
Reviewed By: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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