Anal atresia is a birth defect where the anus doesn’t develop properly, resulting in an unusually narrow or absent anus. Surgery is required to build a new anus and repair damage to other structures in the pelvis. The condition is associated with other birth defects and can manifest in different ways.
Anal atresia is a type of birth defect in which the anus does not develop properly. The condition can manifest as an unusually narrow anus or none at all. If there is no anal opening, there may be an internal pouch of tissue surrounding the end of the rectum, or the bowel may be connected to the genital or urinary tract. Problems are suspected to start very early in pregnancy, although doctors aren’t sure if there is a specific genetic or environmental cause. In most cases, surgery is needed shortly after birth to build a new anus and repair damage to other structures in the pelvis.
Problems with the development of the anus are quite common, although researchers have not yet identified any significant underlying causes. In normal fetal development, the anus, internal genital structures, and urinary tract begin to separate at about eight weeks. Anal atresia occurs when the temporary channels connecting the three structures fail to separate. As a result, the intestines continue to develop abnormally until the time of birth. Anal atresia is associated in many cases with other birth defects, including problems with the kidneys, bladder, and lower spine.
A child born with anal atresia may have a small anus that opens very close to the genitals or does not open at all. In females, the anus may be visible inside the vagina. The rectum can exit the body through a small perforation at the base of the penis or just behind the scrotum in males. Other cases have been reported where the perforation is internal, connected to the bladder or urethra. Finally, a form of anal atresia may occur in which there is no connection; the rectum simply empties into a small pouch inside the body where the anus should be.
An obstetrician can usually recognize anal atresia shortly after delivery during a routine physical exam. If an abnormal or absent anus is found, ultrasound and other imaging tests are needed to determine where the rectum is emptying. A team of doctors also checks for other abnormalities in the genitals, urinary tract, spine, and internal organs. In order to prevent the baby from defecating, he is not fed and instead given vital fluids through an intravenous line.
Reconstructive surgery is considered within the first few hours of detection of anal atresia. Depending on the exact nature of the condition, a surgeon may need to create a temporary stoma in the abdominal cavity and affix a colostomy bag to collect stool. Any perforations or other damage to the genitals and urinary tract are repaired and a new anus forms in its normal position. Follow-up surgeries may be required if the problem cannot be completely corrected. Most children make a full recovery, although a small number of patients have permanent problems controlling bowel movements.
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