What are Anorectal Malformations?
Anorectal malformations, also known as imperforate anus, are defects that occur during the fifth to seventh weeks of fetal development.
With these defects, the rectum (area of the large intestine just above the anus) and the anus (opening through which stool passes) do not develop properly.
Anorectal malformations includes a wide range of defects. Some of these anorectal anomalies are minor and easily treated, with an excellent long-term prognosis. Others are complex, affecting multiple areas of life, from digestion and bowel control to walking and sexual function.
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How common are anorectal malformations?Show
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The condition affects one in 5,000 babies and is slightly more common in males. The exact cause of anorectal malformations in children is unknown.
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What are the symptoms of anorectal malformations?Show
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While children can experience a range of symptoms, the following are the most common:
- Issues passing a bowel movement at birth
- Passing stool through an opening where stool should not be found
- Opening to anus is missing, narrow or misplaced
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What are the risk factors?Show
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Although most babies with the condition have no previous family history, there are cases where inheritance patterns exist.
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What are other disorders associated with anorectal malformations?Show
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Approximately 50 percent of babies with anorectal malformations have other coexisting abnormalities. These commonly include:
- Kidney and urinary tract malformations, such as horseshoe kidney, duplication of parts of the urinary tract, and bladder abnormalities and dysfunction
- Gynecological and reproductive malformations, which can affect the vagina, uterus and ovaries
- Spinal abnormalities, such as hemivertebra, absent vertebra and tethered spinal cord
- A spectrum of congenital heart defects
- Tracheal and esophageal defects and disorders, most commonly tracheal esophageal fistula
- Limb (particularly forearm) defects
- Down syndrome
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How are anorectal malformations diagnosed?Show
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When a baby is born, your physician will perform a thorough physical examination that includes seeing if the anus is open and in the correct position.
A number of diagnostic tests may also be done to further evaluate a problem and to determine whether other abnormalities are present:
- Abdominal X-rays
- Renal ultrasound
- Pelvic ultrasound
- Spinal ultrasound
- MRI
- Echocardiogram
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How are anorectal malformations treated?Show
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Treatment recommendations will depend on the type of anorectal malformation, the symptoms that are present and your child’s overall health. However, most infants with an anorectal malformation will require surgery.
You can read more about our treatment options here.
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What is the long-term outlook?Show
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Your care team will continue to monitor your overall health as it relates to bowel and bladder function, kidney health, overall psychosocial and sexual development.
There are many patients who are able to potty train on their own. However, those with more complex variations may need to participate in a bowel management program to help find the treatment to manage their bowel movements and prevent constipation.
Nurses and other healthcare professionals who work with the child's physicians can outline a program tailored to the child's individual need.