Anorectal malformations, such as an imperforate anus or a cloacal abnormality, refer to congenital (present at birth) disorders that occur when the anus and rectum do not develop properly. Treatment for anorectal malformations varies depending on the type but, in general, most newborns will require surgery to correct the problem. If your child has an anorectal malformation, you can trust the care and compassion of Nemours surgeons and specialists who are consistently named among the very best in the nation.
Approximately 1 in 5,000 babies in the United States is born each year with an anorectal malformation, a condition caused by a defect in the way the lower portion of the intestinal and urogenital (urinary tract/reproductive system) tracts develop while in utero (in the womb).
Anorectal malformations typically occur between the fifth and seventh weeks of gestation (fetal development in the womb), and tend to be slightly more common in boys than girls.
Types of Anorectal Malformations
Anorectal malformations affect the bowel movement process (eliminating stool/poop/feces from the body) due to one of several defects which may include:
- a narrow or misplaced anal passage (called “anal stenosis”)
- membrane, or skin, that covers the anal passage (called “membranous anal atresia”)
- a missing connection between the rectum and the anus (known as “imperforate anus”) with or without an improper connection between the anus and the urinary or genital tract (called a “fistula”)
Common Conditions and Disorders Related to Anorectal Malformations in Children
About half of all children with anorectal malformations also have co-existing (or an increased risk for) associated medical conditions, including vertebral, anal, cardiovascular, tracheoesophageal, renal (kidney) and limb abnormalities or defects — which are collectively known as “VACTERL associations.”
Nemours surgeons and specialists have vast experience working together to care for children with anorectal malformations and related conditions which include:
- spinal defects (spina bifida, hemivertebra, absent vertebra or tethered spinal cord)
- congenital heart defects (tetralogy of Fallot, pulmonary atresia)
- tracheal or esophageal defects (esophageal atresia, tracheoesophageal fistula)
- kidney and urinary tract defects (vesicoureteral reflux, horseshoe kidney)
- limb defects (forearms, fingers and legs)
Other possibly related conditions children may have are Down syndrome (also called Trisomy 21) or rarely, Hirschsprung disease.
Our Team Approach to Your Child’s Care
At Nemours, we work together across specialties and sometimes across locations to provide comprehensive, expert care for your child and family, using the most advanced technologies and treatments available. Your child’s care team may require physicians and nurses specifically trained in:
- neonatal intensive care
- pediatric surgery
- gastroenterology (digestive health)
- cardiology (heart care)
- urology (urinary health)
- nephrology (kidney health)
- behavioral health (psychology and psychiatry)
Nemours’ Family-Centered Care
At the center of our care are our patients and families. We understand that no one knows your child better than you, so we always take time listen to your concerns and provide personal service and holistic care for your child, and family, through emotional support, education and open communication. That’s our promise.
For Appointments: (302) 651-4200
Dr. Vinocur is the director of the Anorectal Malformations/Bowel Management Multidisciplinary Center.
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Note: A parent or legal guardian must be with a child for a first visit.
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The renowned specialists at the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., diagnose, repair and manage anorectal malformations, such as imperforate anus and cloacal abnormalities, in newborns, children and young adults. We treat kids throughout the Delaware Valley, as well as children who come to us from across the country.
Our pediatric surgeons are ranked among the very best in the nation. Along with our highly skilled nurse practitioners, we’re recognized for exceptional care and compassion for families with children who have mild to complex anorectal malformations and associated conditions.
Anorectal malformations refer to a spectrum of issues that can occur when the anus and rectum develop improperly in the womb. We repair all types of anorectal malformations in children, including:
- a narrow or misplaced anal passage (called “anal stenosis”) that makes it difficult to pass stool/poop or have a bowel movement
- a membrane, or skin, covers the anal passage (also referred to as “membranous anal atresia”) and makes it impossible to have a bowel movement
- a missing connection between the rectum and the anus (known as “imperforate anus”) that doesn’t allow stool out of the intestine
- an improper connection between the anus and the urinary or genital tract (called a “fistula”) that prevents stool from passing through the anus
The surgeons and specialists at duPont Hospital for Children understand it can be scary if your child needs surgery. We also understand that children or teens can feel embarrassed or angry about managing an anorectal malformation such as an imperforate anus or a cloacal abnormality. We take great care to provide family-centered service by always listening and caring for your whole child, and family, through emotional support, education and open communication.
A Coordinated Approach to Anorectal Malformations in Children
Kids with anorectal malformations often have other medical conditions that require care. That’s why our surgeons team up across specialties to provide expert evaluation, treatment and ongoing condition management. At duPont Hospital for Children, you can often see specialists from different departments on the very same day.
Anorectal malformations in children, including imperforate anus and cloacal abnormalities, often occur with other medical conditions that together are known as “VACTERL associations”:
- V — vertebral anomalies (misshapen or fused vertebrae)
- A — anal atresia (anal narrowing or blocking)
- C — cardiovascular anomalies (congenital heart disease)
- TE — tracheoesophageal fistula (abnormal connection between the esophagus and trachea, or windpipe)
- R — renal (kidney) anomalies (obstruction or incomplete formation)
- L — limb defects (extra fingers, forearm defects)
Many of these children have spina bifida and urinary tract issues and need medical management for resulting conditions (like neurogenic bowel) that cause constipation and incontinence, or lack of control, of stool.
Expert Diagnosis of Anorectal Malformations in Children
Early diagnosis of an anorectal malformation is critical to making the right surgical decisions for your child, especially in complex situations. Defects such as imperforate anus or cloacal abnormality are often discovered during the newborn physical examination or within hours or days after birth. Sometimes, however, it can take months, or even years of symptoms such as constipation, bloating or abdominal discomfort before a child is correctly diagnosed. This is particularly true for kids with neurogenic bowel (when the nerves in the intestines do not work properly) and spina bifida.
Nemours surgeons and specialists provide expert diagnosis and treatment for kids of all ages using the most advanced technologies available. We may perform one or more of the following tests to confirm the malformation, determine where it’s located, and look for any other potential issues.
If your child has an anorectal malformation, we may order some of the following medical imaging (radiology) tests to help get more information about the condition:
Abdominal X-ray: Provides pictures of the structure and organs in the belly (abdomen), including the spleen, stomach and intestines. It helps us view the general location of the malformation, and determine if there is a defect in the spinal and tailbone area.
Abdominal and spinal ultrasound: Uses sound waves to create images of organs in the pelvic area to help us diagnose abnormalities of the urinary tract and spinal column.
Upper GI (gastrointestinal) series: Examines the organs of the upper part of the digestive system (the esophagus, stomach and duodenum, or the first section of the small intestine). Also referred to as a “barium swallow,” patients drink a chalky, metallic fluid that coats the inside of the organs, allowing us to see them better with X-ray imaging.
Lower GI (gastrointestinal) series: Examines the rectum, the large intestine and parts of the small intestine. Also called a “barium enema” (which may be administered through a colostomy depending on your child’s condition), the chalky fluid allows us to see problems such as intestinal narrowing or blockage with X-ray imaging.
Computed tomography scan (CT or CAT scan): Uses X-ray and computer technology to view more detailed images inside of the body.
Magnetic resonance imaging (MRI): Uses powerful magnets and radio waves to provide a detailed view of the pelvic organs and structures, and can also help us to definitively diagnose spinal abnormalities.
Echocardiogram (“echo”): An ultrasound of the heart that helps us diagnose potential heart defects that sometimes occur in children with anorectal malformations.
Experience You Can Trust: Treating Anorectal Malformations in Children
Our treatment goal is to improve the quality of life for children with anorectal malformations by providing the very best chance to live as close to normal as possible.
Surgical Repair for Anorectal Malformations
Most newborns with an anorectal malformation (such as imperforate anus or cloacal abnormality) will require one or more surgeries to repair the defect. Depending on your child’s malformation and medical condition, we will work closely with a team of specialists, and your family, to develop a treatment plan that’s best for your baby.
If your baby is born with a narrow anal passage (also referred to as “anal stenosis,” a mild malformation), surgical repair may not be necessary. Instead, we may prescribe periodic anal dilation, a procedure that uses small plastic or metal dilators to stretch the anus until, over time (up to six months), it becomes a healthy size.
If, however, the anal passage is not aligned properly with the anal opening (as with a rectoperineal malformation), an operation called an “anoplasty” (anal reconstruction) will need to be done before the dilation.
When a membrane, or thin layer of skin, covers the anus (called “membranous anal atresia”), surgery to remove the membrane will be necessary to allow your baby to have a bowel movement. If a narrowing of the anal passage exists, anal dilations will be required after surgery.
If your baby is born with a complex imperforate anus with or without a fistula (an improper connection), we’ll perform a series of operations (usually three over a series of months) to repair the malformation.
Step 1: Colostomy
The first procedure, usually within the first 24 hours of birth, is performed to create a temporary colostomy that allows your baby to have bowel movements. A colostomy does not impair digestion, which means your baby will continue to get all of the essential vitamins and nutrients. During a colostomy:
- The large intestine is divided into two sections.
- The ends of the sections are guided through two openings (referred to as the upper and lower stomas) in the abdomen.
- The upper stoma allows stool to pass through to a collection bag.
- The lower stoma allows mucus to pass through to another collection bag.
- This is important to keep stool from infecting this section of the intestine when it’s time for the second operation.
Step 2: Pull-Through Procedure
Within a few months, the main operation, called a “pull-through” (or a “posterior sagittal anorectoplasty”), can be done to create an anal opening. The colostomy will remain intact for several weeks to keep the area from becoming infected with stool during the healing process and allow for the dilations to ensure the opening is of adequate size to pass stool.
Anal dilation will be prescribed a few weeks after surgery to help prepare your baby to pass stools.
Step 3: Closing the Colostomies
A month or two after the pull-through operation, we’ll close the colostomy. Your baby’s stools will be frequent and loose after we close the colostomies. But after a few weeks, stools will become firmer and less frequent. Constipation is very common at this point, and a high-fiber diet will be recommended to help keep the bowels moving regularly.
Bowel Management Clinic: Improving Your Child’s Quality of Life
After repairing an anorectal malformation, specialists and providers (surgeons, motility experts, urologists and advanced practice nurses) at Nemours/Alfred I. duPont Hospital for Children work closely to provide ongoing, coordinated care that can significantly improve your child’s confidence and quality of life today and into the future.
Customized Bowel Management Programs to Fit Your Child’s Needs
The goal of bowel management is to control fecal incontinence (the inability to control bowel movements) by keeping the bowels clean at all times. When strictly followed, our bowel management programs have proven extremely successful (in 95 percent of the cases) in reducing or eliminating bowel accidents, which can lead to social isolation, particularly in older children.
First, we’ll evaluate your child’s motility (how food moves through the colon) and then develop a personalized program that fits your child’s — and family’s — needs. The program starts as a trial-and-error process that requires frequent clinic visits. If your family lives a distance from the hospital, we may have you stay nearby at the Ronald McDonald House of Delaware for approximately one week to find the best treatment regimen.
In cases of constipation, we teach you (and later on, your child) to prepare and administer anal enemas every 24 or 48 hours to clean out the entire colon. If your child has diarrhea, smaller enemas might be prescribed to keep the colon clean. We may also recommend a special diet and/or medications to help firm up the stool to slow things down.
Depending on your child’s condition, you may also see other specialists during your visit.
After a period of successful bowel management, we may recommend an antegrade continence enema, or ACE (also referred to as an “appendicostomy” or “Malone procedure”). During an appendicostomy, we attach the appendix to the abdominal wall and create an opening through the navel (belly button) for administering enemas. This procedure can significantly improve a child’s independence, confidence and quality of life.
We also perform Chait® cecostomy surgery, where a catheter or small tube is placed into the first portion of the bowel, or “cecum,” to allow enema fluid to be infused through an adapter.
Staying in Touch With MyNemours
The specialists and advanced practice nurses at duPont Hospital for Children stay in touch with patients and families through MyNemours, our award-winning electronic health record system that also supports secure email communication. We encourage you to ask us questions and provide regular progress updates between clinic appointments so that we can quickly address issues (and celebrate successes) along the way.
No matter where your child receives care at Nemours, your medical team (including your primary care provider) can access your child’s medical history, test results and visit notes anytime through MyNemours. You can also view parts of your child's health records, make appointments, request prescription refills and more through the online patient portal.
Ongoing Psychological and Emotional Support for the Whole Family
In addition to the physical component of treating this condition, kids with anorectal malformations such as imperforate anus or a cloacal abnormality often have emotional problems that can impact self-esteem, social development and the family relationship. A comprehensive treatment plan must address both the physical and mental effects of living with a chronic condition.
Our goal is to keep kids doing what they do best — just being kids. And we do this with the help of behavioral health experts (psychologists and psychiatrists) who have experience working with families coping with chronic medical conditions.
For some, bowel management will be a lifelong necessity. And long before “aging out” of pediatric specialty care — and into the adult health system — we prepare teens with ongoing needs to become responsible about managing their own care. Our Transition of Care program ensures that young people understand their diagnosis, treatments and other aspects involved with having a chronic medical condition, including how to talk to doctors, insurance providers and more.
What to Expect When Your Child Needs Surgery
If your child needs surgery, you can trust the pediatric surgical team at Nemours. Our pediatric surgical specialists (surgeons, anesthesiologists and nurses), understand what kids need, psychologically and physically. Our guidebook provides step-by-step instructions and information about what to expect before, during and right after surgery.
Our pediatric surgery center is located on the second floor of the duPont Hospital for Children, a hospital set in a beautiful park of oaks and green lawns, and featuring free parking for families.
If your child is getting surgery and needs to stay overnight, we’ve designed the rooms with cheerful décor, including multicolor floors and playful wallpaper. Each unit houses a play area/lounge with games, TV, toys, books, tables, couches, highchairs and computers. Kids’ rooms are equipped with a bathroom, a bulletin board to display cards or artwork, and a special touch-screen TV that offers entertainment and educational options through a program called the GetWellNetwork. And, to help you be there as much as possible for your child, our rooms allow one parent to stay with their child overnight.
We also offer a Family Resource Center and Ronald McDonald Family Room to give you some of the comforts of home, just a few short steps away from your child’s bedside.
- laundry facility
- library with books, magazines and DVDs
- business center with a copier, fax machine, computers and printers
- three sleep rooms, equipped with a full-size bed and comfortable furniture, giving parents a peaceful respite from hospital life
The Family Resource Center and Ronald McDonald Family Room was a joint project between the hospital and the Ronald McDonald House of Delaware, located right across from the hospital’s campus.