Imperforate anus, also referred to as an anorectal malformation, is a rare birth defect that includes the absence of a normal anal opening, meaning there is no opening at the end of the digestive tract where the anus is normally located. The diagnosis is usually made shortly after birth by a routine physical examination. The exact cause of anorectal malformations is unknown.
The degree of severity varies greatly from child to child, and there are numerous scenarios of how the anatomy can form. Normally, the rectum connects to the anal opening, where stool exits the body. There are several types of abnormalities and symptoms that can occur with imperforate anus, each of which can affect the child’s ability to have bowel movements.
Imperforate anus is a type of anorectal malformation that affects approximately one in 5,000 babies. The exact cause is unknown.
The diagnosis of an imperforate anus is made by physical exam following delivery. Although the diagnosis of imperforate anus can be made by a physical examination, physicians may recommend additional tests to identify the specific type of imperforate anus. Additional tests may also be ordered to evaluate conditions associated with imperforate anus. Children who have an imperforate anus may also have other congenital anomalies. A commonly used acronym, VACTERL, describes the associated problems that infants with imperforate anus may have:
Tests for evaluation of imperforate anus and any associated anomalies may include:
In the Comprehensive Congenital Colorectal Program1, both medical and surgical therapies are offered for the management of anorectal malformations. Treatment options for anorectal malformations depend on the specific type of abnormality. Pediatric surgeons and urologists work with a team of specialists, including gastroenterologists, nephrologists, neurosurgeons, nutritionists, and wound care/ostomy specialists to provide comprehensive care for each patient.
Surgical treatment of infants with imperforate anus depends upon the anatomy of the malformation.
Currently, the multidisciplinary team at McGovern Medical School at UTHealth is investigating the use of sacral nerve stimulators in treating fecal incontinence and constipation. This treatment involves implanting a device that delivers mild electrical pulses to the pelvic nerves and has been successful when used in conjunction with other therapies.
Patients with a history of imperforate anus could develop a spectrum of long-term conditions. Patients could struggle with constipation, have difficulty with incontinence, or grow to develop normal stooling patterns.
The most important prognostic feature is the severity of the imperforate anus (high or low) and the presence or absence of associated spinal abnormalities. Children with a low lesion, especially those who require only a perineal anoplasty, often grow to have normal stooling patterns. These patients can suffer from constipation and are usually treated with a medication program.
Children with spinal abnormalities of the lower sacrum and a high imperforate anus frequently do not have normal bowel continence or function. These patients are helped by a bowel management program with dietary changes, medications and regular enemas.
The affiliated pediatric specialists at the Texas Pediatric Colorectal Program1 recognize that potty training your child with an anorectal malformation can be difficult. The child may lack the normal nerve and muscle control required to control his or her bowel movements, which leads to the problem of fecal incontinence. The Bowel Management Program can help these children achieve bowel control and avoid future accidents.
At Children’s Memorial Hermann Hospital, we understand the challenges associated with a child diagnosed with an anorectal malformation. Anorectal malformations and their associated anomalies can impact multiple areas of life, including nutrition, bowel and bladder control, kidney function, and even sexual function. The multidisciplinary and collaborative team at the Texas Pediatric Colorectal Program will perform a thorough evaluation and discuss with the patient’s family to determine the best treatment options and therapies for your child.
The affiliated team tailors the health care plan to each individual patient. Our multidisciplinary approach has specialized expertise to help children with anorectal malformations have a high quality of life. Patients with complex anorectal malformations confront medical challenges from birth and into adulthood.
1 Located within the UT Physician Professional Building in the Texas Medical Center, the Texas Pediatric Colorectal Program is affiliated with Children’s Memorial Hermann Hospital and the physicians at McGovern Medical School at UTHealth.
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