Anorectal malformation; Anal atresia
Definition of Imperforate anus
Imperforate anus is congenital (present from birth) 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.
Causes, incidence, and risk factors
Imperforate anus may occur in several forms. The rectum may end in a blind pouch that does not connect with the colon. Or, it may have openings to the urethra, bladder, base of penis or scrotum in boys, or vagina in girls. A condition of stenosis (narrowing) of the anus or absence of the anus may be present.
Signs and tests
A doctor can diagnose this condition during a physical exam. Imaging tests may be recommended.
The infant should be checked for other problems, especially those affecting the genitals, urinary tract, and spine.
With treatment, the outcome is usually good. However, it depends on the exact problem. Some infants may never develop adequate bowel control.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 5/12/2009