Cloacal Malformation

A cloacal malformation is a rare condition found in female babies in which the rectum, vaginal and urinary tract do not separate but merge into one channel. Normally each tract has its own outlet. In children with a cloacal malformation, the vagina, rectum and urinary tract only have one shared outlet from the body. The defect occurs during fetal development when the rectum, vaginal and urinary tracts fail to separate.


Symptoms

Symptoms may include the following:

  • The baby does not have a visible anus
  • An abnormal closing or absence of a vagina
  • A single opening in the baby’s pelvic area
  • Small external genitalia with an oversized clitoris

Diagnosis

  • A cloacal malformation may be detected during pregnancy with an ultrasound. If a cloaca is diagnosed during pregnancy, the fetus is monitored throughout the pregnancy with follow-up ultrasounds.
  • After birth, cloacal malformations may be discovered by physical examination or if the baby’s first bowel movement does not occur or passes out of the wrong opening. If the malformation is suspected by physical examination, the doctor may order diagnostic images, such as an ultrasound, or retrograde genitogram.  Frequently, an exam under anesthesia is performed in the neonatal period at the time of colostomy formation. This can give us important information about the anatomy that is difficult to obtain with imaging studies alone.

Treatment

Cloacal malformations require surgery. At Texas Children’s Hospital, we use a multidisciplinary team of surgeons from urology, pediatric gynecology, gastroenterology and pediatric surgery to treat your child’s condition.

Colostomy

After birth, a surgery called a colostomy is performed to make sure your baby is able to pass their feces safely. A part of the large intestine is connected to a surgical opening created in the abdomen (stoma) and feces is then passed through the stoma into a sealed pouch outside the body. The procedure is reversible. The colostomy is in place until your child is old enough for their full reconstructive surgery, usually between six and tweleve months of age.

Vaginostomy

This is a procedure to provide drainage of the urinary tract through decompression of the gynecologic system where the urine tends to accumulate. This involves placing a tube into the vagina that is connected to a bag where the urine can drain. This is often done after birth at the time of colostomy formation. If needed, it can also be done when your child is a little bit older by interventional radiology.

Some children drain urine freely and do not need this procedure. Other infants have a common channel that is easy to pass a catheter into, and can be managed with intermittent catheterization instead of a vaginostomy. It is imperative however to make sure the urine is being completely drained, because otherwise it can back up and cause irreversible damage to the kidneys. Our team will follow your child’s kidneys and bladder closely with ultrasounds to make sure the urine is emptying well with whatever method of drainage is used.

Exam under anesthesia

Around six months of age, we do an exam under anesthesia in the operating room with gynecology, urology and general surgery. This is where we learn all the details we need to know about the anatomy before planning reconstructive surgery. This involves placing a very small camera into the common channel, bladder, and vagina to visualize the anatomy and measure the length of the urethra and common channel. We also stimulate the anal sphincter muscle complex to determine location and determine how strong that muscle is. This give us some information that helps us predict future bowel continence. We will then place catheters into the bladder and vagina at the end of the procedure. When your daughter wakes up from anesthesia, she will then go to radiology for a genitogram to give us a radiology picture of the anatomy. These procedures are short, and you will go home the same day.

Reconstructive Surgery

When your baby is older and stronger, typically around six to twelve months of age, reconstructive surgery will be performed to create three separate tract openings. Once your child has healed from the reconstruction, a surgeon will reverse the colostomy to allow your child to achieve bowel movements through their anus.


Prognosis (or Long-Term Outcomes)

Our ultimate goal for your child is to be clean and dry of urine and stool, and to be able to function sexually later in her life. Even after surgery to correct the anatomy, some children with cloacal malformations will have issues with fecal or urinary incontinence.

  • Bowel control
    • Our bowel management team at Texas Children’s Hospital will help follow your child after surgery and through potty training into childhood to help with stooling. A patient who experiences feeling or pushing during bowel movements, and is able to stay clean in between bowel movements usually has good prognosis for bowel control. A patient who has multiple stools each day without any signs of sensation or pushing usually has a poor chance for bowel control. The quality of the sacrum, any spinal cord anomalies such as tethered cord, and the length of the common channel are all key predictors of bowel control (link to predicting continence in ARM). Our bowel management team will initially help manage stool continence with medications or enemas. Some children may require an appendicostomy or cecostomy tube to achieve continence. This will typically occur during early school age, around 4-6 years of age.
  • Urinary Control
    • Our urology team will closely follow your child’s urinary continence at our multidisciplinary clinics.  Some patients may need intermittent bladder catheterization to help empty their bladder and keep them clean and dry of urine in between catheterizations.  In cloacas where the common channel is shorter than 3 centimeters, the majority of patients have voluntary urinary control, and only about one in five patients will need intermittent catheterization.
  • Gynecologic function
    • As your daughter approaches puberty, our gynecology team will identify any problems that may occur with menses. Before the patient becomes sexually active, our gynecologists will evaluate the vaginal opening to make sure it does not need any additional repairs or dilation. In most cases, vaginal delivery of a baby is not possible and a cesarean section is required. Our team will help counsel you and your daughter about sexual activity and child bearing as she reaches the appropriate maturity.

Associated Conditions

About half of patients with cloacas also have a defect affecting their urinary and gynecologic organs. They may also have spinal or sacral defects, and sometimes have cardiac defects. Identifying other abnormalities or defects is a priority in the work-up of patients with cloacal malformations. The most frequently performed diagnostic tests in the newborn period are ultrasound to look at the kidneys, bladder and pelvic organs; spinal ultrasound (to look at the spinal cord); x-rays of the spine and sacrum; and ultrasound of the heart (echocardiogram).  After the newborn period, we look at the spine and pelvic organs with MRI (magnetic resonance imaging)

  • Urinary system and gynecologic organs
    • Some children with cloacas may have only one kidney, they may have urine that backs up into the kidneys (vesicoureteral reflux), or blockage of the kidney drainage system (hydronephrosis).  Fluid (urine) can collect in the vagina and uterus, called hydrocolpos. This can press on the bladder, causing blockage of the ureters and leading to hydronephrosis.  Some girls with cloaca will have problems with gynecologic organs. Sometimes these can be corrected with surgery, but there can be problems that may affect the ability to give birth in the future. Our gynecologists are with us at each step of the evaluation, and will help you understand  how any anomalies we find may affect future fertility or gynecologic function.
  • Spinal and sacral defects
    • In some cases, the spinal cord may be incorrectly positioned within the bones of the spinal column, a condition called tethered cord. If this is diagnosed, our neurosurgery team will help follow your child and determine if this needs repair. The sacrum can also be small or not formed correctly, and we can detect this with x-ray. Information about how the sacrum is formed can help us predict prognosis for future urine and stool continence, although it is just one of the factors that plays a role.