Anorectal malformation is a rare birth defect affecting the anus and rectum, often requiring surgery. It can be caused by genetic factors or occur randomly. Symptoms include a misplaced anus, imperforate anus, and intestinal issues. Treatment varies depending on the case, and follow-up support may be necessary.
An anorectal malformation is an abnormality in the formation and/or position of the anus and rectum, the outlet for the digestive tract. This birth defect is relatively rare, occurring in approximately one in every 5,000 births, and tends to be more common in boys. Treatment involves surgery to correct the malformation, and in some cases, multiple surgical procedures may be needed to address the problem. The condition is usually identified shortly after birth because it tends to be visually noticeable.
This birth defect occurs when errors occur during fetal development and the anus and rectum fail to separate from the urinary tract and genital tract. In some cases, there appears to be a genetic component. Anorectal malformation is linked to several genetic diseases and in families with a history of the condition there is an increased risk of developing it. In other cases, it appears to be random in nature and there are no identifiable risk factors.
In a child with anorectal malformation, the anus will be further forward than expected. Sometimes the intestine flows into the genitourinary tract. Children may also have an imperforate anus, where there is no outlet to the outside, a condition that requires immediate surgery to create an outlet for stool before complications develop due to an inability to defecate. Treatment involves plastic surgery to reposition the rectum and anus and, in the case of an imperforate anus, to build a new anus so the child can express stool.
The complexity of the intervention varies according to the nature of the case. Sometimes, a child needs to be fitted with a colostomy, and a series of surgeries are performed to move the rectum and anus, repair problems, and rebuild the rectum. In other cases, the surgery is relatively simple and only one procedure is needed to reposition the rectum and correct the anorectal malformation.
Sometimes, an anorectal malformation is subtle and may not be noticed soon after birth. In these cases, problems may develop in the days immediately following birth. Pediatricians can evaluate children who seem to be having difficulty with their intestinal tracts to look for signs of congenital abnormalities that may be responsible for the problem, and can refer their patients to a surgeon if surgery seems necessary. People with this condition generally do not need follow-up support once surgeries are complete and they defecate normally. If the condition is accompanied by other digestive tract abnormalities, however, the patient may need a special diet or other measures.
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