Imperforate Anus: Rare Birth Defect Requiring Prompt Surgery
Imperforate anus, a rare birth defect, affects about 1 in 5,000 babies, occurring more frequently in boys. It occurs when the baby's anus is improperly developed, preventing normal stool passage. Diagnosis involves a physical exam, X-rays, and other tests to detect associated abnormalities.
Symptoms in newborns include the absence of a visible anal opening, inability to pass stool, abdominal swelling, vomiting, and feeding difficulties. Immediate medical evaluation is crucial. The condition develops in the womb during the fifth to seventh weeks of pregnancy, with an unknown cause.
Treatment almost always requires surgery. A temporary colostomy may be needed before corrective surgery. In female babies, the rectum, bladder, and vagina may share one large opening, called a cloaca. Corrective surgeries include perineal anoplasty and pull-through operations, with anal dilation needed to prevent narrowing.
The long-term outlook for babies born with imperforate anus is positive with regular follow-up care. A high-fiber diet and possible stool softeners or laxatives can help manage constipation. Symptoms may include no anal opening, anal opening in the wrong place, no stool in the first 48 hours, swollen abdomen, and abnormal connections between the rectum and other systems.
