Condition

Pediatric Anorectal Malformations

What You Need to Know

Anorectal malformations are birth defects that affect the anus and rectum, causing problems with bowel movements. These malformations are slightly more common in boys than girls.

Symptoms

Symptoms may include:

Difficulty passing stool or gas
Abdominal pain
Constipation

Diagnosis

Anorectal malformations can be diagnosed through a physical exam and imaging tests such as X-rays or ultrasounds.

Treatment

Treatment for anorectal malformations involves surgery to correct the defect and improve bowel function. Follow-up care is important to monitor for potential long-term issues.

The Children’s National Colorectal & Pelvic Reconstruction team has the world's largest experience treating anorectal malformation cases, such as imperforate anus, and specializes in the repair of the colorectal, urologic and gynecologic organs.

What Are Pediatric Anorectal Malformations?

Anorectal malformations occur when a baby’s anal opening, rectum and the associated sphincter muscles and nerves that help the body determine that it is time to go to the bathroom do not develop properly. As a result, the infant is unable to have normal bowel movements, which can lead to a host of other health problems.

Anorectal malformations are congenital defects that occur in developing babies early on in pregnancy. They can range from mild to complex and can develop differently in males and females. Treatment and prognosis will vary depending on the type and severity of the malformation. Early diagnosis and prompt treatment are critical to prevent potential complications.

Pediatric Anorectal Malformation Symptoms

Typically, symptoms of anorectal malformations can be noted shortly after birth. They may include:

Difficulty or inability to pass stool or gas
Abdominal pain
Constipation
Stomach bloating
Frequent urinary tract infections (UTIs)

In more severe cases, there may be visible signs such as a missing or malformed anal opening, swelling in the groin area or discharge from the anus. Infants with anorectal malformations may also have other birth defects or genetic conditions that require additional care.

In older children, symptoms may include chronic constipation, soiling (accidentally passing stool or fecal matter) and difficulty controlling bowel movements. Mild cases may not present with any symptoms until later in life.

Diagnosis of Anorectal Malformation in Infants

An anorectal malformation is usually diagnosed through a physical examination and imaging tests. These can include X-rays, ultrasounds or a fluoroscopic study to evaluate the anatomy of the anus and rectum.

In some cases, further testing may be necessary to rule out other potential causes for symptoms or to determine the extent of the defect. This may involve consultations with specialists such as pediatric urologists or geneticists.

Types of Anorectal Malformations

There are several types of anorectal malformation, each of which has its unique characteristics. Doctors typically classify malformations based on where the rectum ends in the abdomen and if there is a fistula – an abnormal connection that develops between organs which can cause stool to pass into other parts of the abdomen. Types of anorectal malformations include:

Cloacal malformation. The vagina, rectum and urinary tract are combined into a single channel.
Imperforate anus. The anal opening is missing or blocked.
Rectal atresia. The rectum does not connect to the anus.
Rectal stenosis. The anus or rectum is too small to allow stool to pass.

Types of Malformations

In this malformation the urethra and vagina are normal, and the distal rectum ends in the vestibule, just behind the vagina. This malformation is ideally suited for a perineal preserving PSARP (PPP), an operation developed at Children's National Hospital, which moves the rectum to within the center of the sphincter and does not cut the perineal body.

Vestibular fistula
Perineal fistula with the fistula exiting anterior to the sphincteric ellipse in the perineal body
Perineal fistula with the fistula exiting within the sphincteric ellipse, at its most anterior extent
Anal stenosis – a narrow opening at the center of the sphincteric ellipse
A normal anus in size and located within the sphincteric ellipse, but anteriorly located with a smaller perineal body

The distal rectum exits as a fistula into the center of the sphincter mechanism.

The distal rectum exits as a fistula into the perineal body.

The distal rectum exits as a fistula into the perineal skin, but within the sphincter complex at its anteriormost extent.

Anal stenosis is a rare malformation in which the anal opening is very small, but is located within the sphincter mechanism. The anomaly may at first be missed on physical exam, and the patient only recognized when they present with constipation, due to the ineffective emptying via the small anal opening. This anorectal malformation is associated with a presacral mass, usually a teratoma.

In this malformation the urethra and vagina are normal, and the distal rectum ends in the vestibule, just behind the vagina. This malformation is ideally suited for a perineal preserving PSARP, which moves the rectum to within the center of the sphincter and does not cut the perineal body.

The highest type of anorectal malformation in a male. The distal rectum enters the urinary tract at the bladder neck, tapering into a thin fistula. The height of the rectum determines the surgical approach. The dotted line marks the pubococcyceal (PC) line, and if the healthy rectal lumen is above this line, the surgical approach should be via the abdomen, using laparoscopy. If the rectum lies below this line, it can be approached posterior sagittally. In this case the approach needs to be via the abdomen. An approach to the rectum from below risks not finding the rectum and injuring the urinary tract.

The distal rectum exits as a fistula into the most anterior aspect of the sphincter mechanism, and there is a subepithelial (below a body's outer layer) tract of meconium in the scrotal raphe (a groove in the organ tissue).

The distal rectum entered the urinary tract at the bulbar urethra.

The distal rectum enters the urinary tract at the level of the prostatic urethra.

Treatment of Pediatric Anorectal Malformations at Children's National

Most babies with anorectal malformation will need one or more specialized surgeries to correct the problem. Our highly experienced colorectal surgeons are trained in the latest surgical approaches for all types of anorectal malformations, including implementing leading-edge, minimally invasive techniques. In fact new operations for male and female patients with rectoperineal fistula were developed first at Children’s National.

Treatment for anorectal malformations will depend on the type and severity of the defect. In most cases, surgery is necessary to correct the defect and improve bowel function. Our team at Children’s National has extensive experience performing surgeries for anorectal malformations, the largest in the world, including complex cases that require multiple procedures.

In some cases, a temporary ostomy may be necessary to allow the intestines time to heal before proceeding with reconstructive surgery. This involves creating an opening in the abdominal wall through which feces can exit into a bag outside of the body until a later procedure can be performed.

Surgical Repair for Anorectal Malformation

Colostomy

Posterior Sagittal Anorectoplasty (PSARP)

Anorectal reconstructive surgery, also known as posterior sagittal anorectoplasty (PSARP), is performed to connect the rectum to the anal opening as well as close any abnormal openings that may interfere with the ability to have a normal bowel movement. In cases where there is an absence of an anal opening, your surgeon will create a new one.

The majority of PSARP procedures are performed when a baby is between one and six months old. The type of PSARP performed will depend on the position of the rectum and anus (whether it is low or high), how well the sphincter muscles work, and if there are any abnormal openings (called fistulas) that need to be repaired. For appropriate cases, pediatric surgeons at Children’s National Hospital use minimally invasive laparoscopic techniques to help reduce the damage to surrounding structures and minimize pain post-surgery.

Colostomy Closure

Your child’s colostomy will remain in place for approximately eight weeks following the reconstructive surgery to allow the rectum and anal opening to heal before coming in contact with any waste. When your child is ready and completely healed, the colostomy will be surgically closed. Within several days, they will begin passing stools on their own through the anus. At first, stools will be loose and occur frequently. To protect your child’s skin from diaper rash and irritation, safe topical treatments should be applied. As your child continues to heal, their stools will normalize, becoming firmer and less frequent.

Caring for Your Child After Reconstructive Surgery for an Anal Malformation

Learn how to care for your child after reconstructive surgery. Before performing any of steps from this video, consult your child's pediatrician.

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Explore Conditions that Can Develop with Anorectal Malformations (ARM)

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Recovery from Anorectal Reconstructive Surgery

Recovery from anorectal reconstructive surgery will typically require two to four days in the hospital. For several months after surgery, anal dilations may need to be performed to help stretch the anus to the appropriate size for your child’s anatomy and age. Although surgery restores some function, the nerves and sphincter muscles your child relies on to let them know they need to go to the bathroom may be weak.

You can best help your child regain normal bowel control by following your doctor’s recommendations. To keep your baby comfortable and prevent constipation after surgery:

Feed them a high-fiber diet (if they are old enough to eat solids)
Encourage adequate hydration
Avoid foods that tend to cause firm stools, such as dairy products

As you work with your surgical team on your child’s postoperative care, we’ll provide you with detailed instructions tailored specifically to their condition.

After surgery, some children may still face challenges such as constipation, soiling and difficulties with potty training. Fortunately, these issues can be effectively managed through a bowel management program. This program can help restore your child's optimal function and strengthen their muscles post-surgery. To address constipation, it's essential to maintain a balanced diet rich in fiber, along with laxatives if necessary. It's important to consult with your surgeon to understand what recovery will entail for your child.

Long-Term Outlook for Children with Anorectal Malformations

The long-term outlook for children born with anorectal malformation is generally positive. Most children will experience improved bowel function and control after surgery and can lead a healthy, active life.

As the child grows, they may need additional surgeries or procedures to address any ongoing issues such as constipation or incontinence. Regular follow-up appointments can help monitor their progress and address any concerns that may arise.

It's important to remember that each child's case is unique, and individual outcomes may vary. However, with proper medical care and support, children born with anorectal malformations can thrive and live fulfilling lives. As a parent or caregiver, it's essential to advocate for your child's needs, work closely with their medical team, and provide them with love and support as they navigate this condition. Some patients require a bowel management program as they reach potty training age. With compassion and expert care, we can help children with anorectal malformations reach their full potential.

Schedule a Visit with One of Our Anorectal Malformation Specialists

If your child has been diagnosed with anorectal malformation, our team is standing by to provide specialized care.

Make an appointment

Meet the Providers Who Treat Anorectal Malformations

Our providers are specifically trained to care for the needs of children with anorectal malformations, providing expert care when your child needs it most. Get to know our team.

View our specialists

Patient Stories

Joy, Progress and a Better Life for Franz and His Family
Franz could not get a diagnosis or treatment at home in Guatemala for a malformation that made day-to-day life a struggle. Care from our Pediatric Colorectal & Pelvic Reconstruction team changed his and his family's life.

Departments that Treat Anorectal Malformations

Bowel Management Program

The Division of Pediatric Colorectal & Pelvic Reconstruction offers a comprehensive Bowel Management Program that provides customized treatment for children who experience constipation and/or fecal incontinence (the inability to control their bowels). Learn more about our Bowel Management Program.