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Anorectal Malformations

(Imperforate Anus; Anal Atresia)

By William J. Cochran, MD, Associate, Department of Pediatrics GI and Nutrition;Clinical Professor, Department of Pediatrics, Geisinger Clinic, Danville, PA;Temple University School of Medicine

In anorectal malformations, the opening of the anus is narrow, covered with skin, or missing.

  • Infants may develop intestinal obstruction.

  • The diagnosis is based on a physical examination and x-rays.

  • Surgery is needed to correct the defect.

The anus is the opening at the far end of the digestive tract through which stool leaves the body. The rectum is the pouch of large intestine that holds stool prior to defecation. In anorectal malformations, skin may be covering the area where the anus should be and the skin may be several centimeters thick or just a thin membrane. The opening to the anus may be narrow or may be missing completely.

Anal atresia occurs when the intestines do not develop properly while the fetus is growing. It is not known why the intestines do not develop properly.

Most infants with anal atresia develop some type of abnormal connection (fistula) between the anus and either the urethra, the area between the urethra and anus (the perineum), the vagina, or rarely the bladder. Anal atresia commonly occurs along with other birth defects, such as defects of the spine, heart, kidneys, and limbs. Affected infants may also have tracheoesophageal fistula and esophageal atresia.

Infants with anal atresia do not defecate normally after birth. Eventually, if the defect is not treated, intestinal obstruction develops. Intestinal obstruction is a blockage that completely stops or seriously impairs the movement of material in the intestines. Symptoms of intestinal obstruction in infants include pain, irritability, vomiting, and a swollen abdomen.

Diagnosis

  • Physical examination

  • X-rays

Doctors often detect the abnormality by looking at the anus when they first examine the baby after birth, before symptoms develop.

Using x-rays, a radiologist can see the path of a fistula.

Treatment

  • Surgery

Anal atresia usually requires immediate surgery to create a passage for feces and to close the fistula. However, sometimes infants first have a surgical procedure called temporary colostomy. In this procedure, the surgeon makes a hole in the abdominal wall and connects it to the colon to allow stool to flow into a plastic bag on the abdominal wall. The colostomy stays in place until the infant is older and the structures that need to be repaired have grown larger. The colostomy is closed when surgery to fully repair the defect is done.