Cloacal Malformation
A cloacal malformation is a defect in females where the rectum, vagina and urinary tract are fused together, creating a single common channel.
What to Expect
Inside the Center for Colorectal and Pelvic Reconstruction
Nationwide Children’s Hospital treats more patients with cloacal malformations than any other program in the United States. As leaders in research on cloaca and other colorectal conditions, our team has developed new and safer treatment methods that are shown to have better, more long-lasting results.
At Nationwide Children’s, our mission is to provide the best care possible to your child. From infancy through adulthood, our expert team of colorectal surgeons, urologists, gynecologists, gastroenterologists, psychologists and child life specialists, is prepared to care for your child throughout their journey. Additionally, because cloaca affects several systems in the body, you’ll meet with specialists from various disciplines from the beginning.
What Are Cloacal Malformations?
Females typically have three openings to accommodate the genital, intestinal and urinary tracts. In developing fetuses, these openings are joined in a sac known as the cloaca.
Cloacal malformation, sometimes called persistent cloaca, is found in female children where the rectum, vagina and urethra are fused together, creating a single common channel. In normal anatomy, these openings are separate.
Cloacal malformation is diagnosed in one of every 20,000 to 25,000 newborn girls, usually just after the baby is born.
There is no known cause of the condition. It occurs randomly. Occasionally, there are clues on the prenatal ultrasound and MRI of this condition.
What Are the Symptoms of Cloacal Malformation?
A newborn with this condition does not have a visible anus. She may also have symptoms such as:
- Abdominal swelling
- Uterine didelphys—more than one uterus and cervix and possibly vagina
- Vaginal enlargement (known as hydrocolpos)
How Is Cloacal Malformation Diagnosed?
The diagnosis and treatment of cloacal malformation requires a collaborative effort by experienced pediatric general surgeons (with colorectal experience), pediatric urologists, pediatric gynecologists and other specialists. Multidisciplinary care is important because malformations affect the urinary, gynecologic and gastrointestinal tracts. At Nationwide Children’s, all three subspecialties are involved from the beginning.
To determine whether a baby has cloacal malformation, a doctor will perform a physical exam of the vulva and anus. If only one opening is observed instead of three, it is likely that the baby has cloacal malformation.
Fifteen to 20% of the time, doctors diagnose cloacal malformation before birth. A doctor usually makes this diagnosis by detecting hydrocolpos (swelling in the vagina caused by fluid buildup).
Early diagnosis can help parents plan for their child’s treatment. This is important because children benefit from the expertise and experience of a facility that treats many cases of cloacal malformation, such as Nationwide Children’s. While most pediatric surgeons might see a patient with cloacal malformation once or twice in a career, the providers at Nationwide Children’s treat 25 to 50 patients per year.
Diagnostic tests in the newborn period include:
- Ultrasonography of the kidneys, bladder and other pelvic organs
- X-rays of the spine and sacrum
- Spinal ultrasound
How Is Cloacal Malformation Treated?
When a baby is diagnosed with cloacal malformation, the team at Nationwide Children’s assesses the internal anatomy and identifies any defects related to the condition. Within the first 24 to 48 hours after birth, doctors perform procedures to help the baby’s body function properly. These include:
- A colostomy so that poop may pass
- Sometimes a procedure is required to drain fluid that has built up in the vagina (hydrocolpos)
After six months and once the child is stable and able to pass urine and poop from her body, the family will meet with the surgical team to determine the appropriate course of treatment. Cloaca anatomy can vary widely, and the complexity of the surgical reconstruction, known as posterior sagittal anorectal vaginal urethral plasty (PSARVUP), also varies.
Types of Treatment
While the initial goal is to stabilize the child and relieve blockages in the urinary and intestinal tract, the long-term goals are directed at restoring anatomy and function while limiting surgical trauma as much as possible.
Diagnostic tests help determine the length of the common channel and urethra as well as other important aspects that help the care team decide the best way to correct the malformation.
Patients usually fall into one of two groups, with each requiring a different treatment approach:
- The first group involves girls who are born with a common channel shorter than 3 centimeters and a urethral length of greater than 1.5 centimeters. For most of these patients, the cloacal malformation can be repaired without the need for an incision through the abdominal (stomach) area. This method is a simpler operation that reduces the risk for fistulas (abnormal connection between two body parts, often the result of surgery) and improves the child’s ability to maintain continence (ability to control movements of the bowels and bladder).
- The second group includes patients with a longer common channel and shorter urethra. These patients usually need an abdominal approach (laparoscopy or laparotomy). Decisions must also be made about urinary and vaginal reconstruction or replacement. These types of corrective surgery are best handled in centers like Nationwide Children’s with a team that specializes in the repair of these defects, and have collaboration between pediatric colorectal surgery, urology and gynecology.
What Are the Expected Outcomes for Cloacal Malformation?
Nationwide Children’s is the only center in the U.S. to offer care from childhood through adulthood for patients with cloacal malformation. The main goal is for the child to gain urinary and bowel control, and to be able to function sexually later in her life.
Bowel Control
Patients with short common channel anatomy are generally more likely to successfully potty train using a more traditional process. Patients with more complex malformations may require help with bowel control and often benefit from attending a bowel management program to achieve control. The quality of the sacrum and spine are key predictors of bowel control, as is the length of the common channel.
Urinary Control
Patients with cloacal malformation usually have a large bladder that often does not empty completely. Fortunately, most patients with cloacal malformation have a good bladder neck. This combination makes them ideal candidates for intermittent catheterization, which keeps them completely dry.
In patients where the common channel is shorter than 3 centimeters, about one in five patients require intermittent catheterization to empty the bladder. The remaining four out of five patients have voluntary urinary control.
Gynecologic Function
Further evaluations are needed as the child grows and matures. Menstruation is possible even if the vagina was reconstructed. Before the patient becomes sexually active, the vaginal opening should be evaluated for possible additional surgical procedures. In most cases, vaginal delivery of a baby is not possible, and a cesarean section is recommended.
What Types of Complications Do Girls With a Cloacal Malformation Experience?
Urinary System and Gynecologic Organs
About half of patients with cloacal malformation also have an abnormality affecting their urinary and gynecologic organs. Some children may have only one kidney, or they have urine that backs up into the kidneys (vesicoureteral reflux) or an enlargement of the kidney drainage system (hydronephrosis).
About half of girls with cloacal malformation will have abnormalities of their gynecologic organs. This may affect how these organs function later in life, including the ability to give birth. All girls with cloacal malformation have normal ovaries and should go through puberty normally.
Spinal and Sacral Defects
Cloacal malformations may affect the sacrum, or small bones found in the lower back. Sometimes, one or more of the bones may be missing. More often, the sacrum may be smaller and not correctly formed. In some cases, the spinal cord may be attached to the bones of the spinal column. When this happens, it is known as tethered cord, and may need an operation.
Associated Conditions
Patients with cloacal malformation may have abnormal development in other organ systems. These abnormalities may affect the spine (Vertebral) or cause Anorectal malformations, heart defects (Cardiac), Trachea-Esophageal fistula and/or atresia, or Renal and Limb abnormalities. These abnormalities are collectively referred to as VACTERL association. A patient is diagnosed with VACTERL association if they have abnormalities in three or more systems.
Why Nationwide Children’s?
Nationwide Children’s care of patients with colorectal malformations stands above the rest. Here’s why:
- Lifelong Care – We are the only center in the U.S. to offer care from childhood to adulthood.
- Multidisciplinary Team – Cloacal malformations affect girls physically as well as mentally. Our expert team of surgeons, urologists, gynecologists and psychologists are ready to care for your child no matter your needs.
- Leaders in Research – We are leading the way in research on cloacal malformations and other colorectal conditions. Through our research, we developed a new approach that improves continence.
- Experience – We see a high volume of patients with cloacal malformations, so are experts at diagnosing and treating girls with this condition
Frequently Asked Questions About Cloacal Malformations
At the heart of Nationwide Children’s Hospital’s mission is a dedication to providing patient- and family-centered care. Strong communication helps us provide that type of care. It is especially critical when managing a long-term condition, such as cloacal malformation. By asking questions, parents have the information to be our partners in their child’s wellness journey. Here are a few frequently asked questions and answers on the topic.
If my baby has a cloacal malformation, will my next child have one, too?
If your baby has a cloacal malformation, there is a slightly higher risk that your next child will also have one. However, that risk is minimal. Cloacal malformation is a very rare condition.
Did I do something that caused my baby to have a cloacal malformation?
No. A cloacal malformation occurs spontaneously. It does not happen because of anything the parents did or did not do. At Nationwide Children’s, we offer genetic counseling to further explore such details.
How will my child be affected in terms of future sexual function and quality of life?
Several components are involved in having a healthy and satisfying sex life during adulthood. Body image is an important part of that puzzle. Our psychology experts become involved early on in the treatment process to help girls with this condition feel confident and comfortable in their bodies. At Nationwide Children’s, we also have social workers and child life specialists who offer additional support related to behavioral and psychological health.
How will my child’s future fertility be affected?
Fertility rates for women with a cloacal malformation are lower than those of the general population. However, every woman born with a cloacal malformation is unique. During adulthood, some women with the condition are able to successfully bear children.
A member of our gynecology team is available to work with each child through adolescence and adulthood to address issues such as fertility. Ongoing consultations help the gynecologist understand each patient’s gynecologic anatomy and reproductive potential.
Will my child have challenges maintaining good hygiene throughout her life?
After each baby’s reconstructive operation, our doctors have a better understanding of any bladder or bowel incontinence issues she will experience. We communicate this information to parents in a straightforward and trustworthy manner. While delivering good news is the goal, we know that setting realistic expectations is more important.
If the chances are high that your child will need help in developing social continence , we have more than 40 professionals on our medical team who can offer support. With effective bowel management she should be able to attend school in normal underwear and participate in other childhood experiences. It may take surgery to get to that point, but we can help you and your child navigate every step along the way.
