What is Cloacal Exstrophy?
Cloacal exstrophy, or OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) syndrome, is a condition at birth in which part of the abdomen is open. Some abdominal organs, such as portions of the bladder and intestines, are visible on the outside of the body. This complex condition often causes greater space in between external genitalia, meaning there may be more space than usual between the labia or between the testicles. In children with this condition, the anus may be closed. The length of the intestines in these patients can be short, leading to additional care needs and concerns. Cloacal exstrophy occurs in one out of every 200,000 to 400,000 births.
Patients with cloacal exstrophy benefit from multidisciplinary care. The team includes doctors who specialize in the lower digestive tract (colorectal surgeons), the urinary system, (urologist), the female reproductive system (gynecologist), the digestive system, (gastroenterologist) and newborns (neonatologist). This team works together to address the medical needs of each patient starting at birth. This approach helps achieve the best long-term outcome.
Cloacal Exstrophy Causes
There is currently no known cause of cloacal exstrophy. No medication or parental activity has been linked to cloacal exstrophy. Currently, it does not appear that cloacal exstrophy can be prevented.
Cloacal Exstrophy Symptoms
It is unclear if mothers or fetuses have symptoms before their diagnosis.
Cloacal Exstrophy Diagnosis
Cloacal exstrophy is usually diagnosed in the second trimester between 17 and 30 weeks. If an expectant mother gets prenatal care, cloacal exstrophy is commonly diagnosed during standard ultrasounds. At these visits, the care team may see the bladder or intestines outside the abdominal wall. A doctor will diagnose the condition using magnetic resonance imaging (MRI) or ultrasound. This allows them to see which structures are outside the abdominal wall. It also helps them understand the severity of your child’s condition.
Cloacal Exstrophy Treatment
Newborns with cloacal exstrophy will need a multidisciplinary team to plan treatment that is specific to the type and extent of the condition. This care will start at birth and will be ongoing as your child develops. If diagnosed at birth, a neonatologist may refer you to Cincinnati Children’s for additional care. Providers at Cincinnati Children’s are skilled in treating all aspects of cloacal exstrophy, from treatment immediately after birth to continuing care.
Initial Management
The first priority after birth is to ensure your child is stable. This includes tests to rule out any cardiac malformations. A surgery is usually performed within one to two days after birth. The goal of this first surgery is to separate the bowel from the bladder. At the same time, the intestine will be placed back into the abdomen, and the abdominal wall will be closed. At this time, a procedure called a Hindgut rescue is done. During this procedure, a surgeon creates a stoma (a small opening in the abdomen) at the end of the colon. This will allow the stool to pass through the intestine to the outside of the body into a collection bag. A urologist will also join the bladder together. They may place the bladder into the abdomen.
A coordinated care team will monitor your child to make sure they are recovering well from the surgery. The care team will also conduct chromosomal testing to determine gender. Gender reconstruction procedures typically wait until the child can be a part of the final decision.
From there, the next few weeks and months are focused on getting your child proper nutrition. This care is done in collaboration with the intestinal rehabilitation team, including dietitians.
After initial treatment and recovery, your care team will use ultrasounds and MRIs to evaluate for spinal abnormalities. Some of these may need surgery to correct. Your child may have a second surgery within the first year of life to close the bladder and reconstruct the pelvis. Your care team will coordinate procedures to limit the number of times your child has to go under anesthesia.
Long-Term Management
After your child’s initial procedures, close follow-up with your care team is needed. Proper nutrition will continue to be important for your child.
Some patients with cloacal exstrophy may have a permanent stoma (opening on the outside of the abdomen for stool collection into a bag). However, this decision is now based on the patient, since some may be able to have their stoma closed. When a stoma is present, it is important to monitor your child’s growth, as too much salt lost through the stoma may slow down growth. To support nutrition, your child will have their urine (pee) sodium checked during follow-up appointments. This monitoring starts once the stoma is created. It continues at periodic checkpoints while your child has the stoma. This is especially true if your child has growth problems. Some children need to take sodium supplements by mouth for their sodium to be at a normal level.
Traveling with a child with cloacal exstrophy may require extra care. Families need to have all medical supplies with them when traveling. Parents should also know where the nearest hospital and emergency room are located and when to seek care.
As your child develops, your surgeon will evaluate your child’s bowel function, urinary continence and fecal continence. This evaluation may include measuring colon length and stool (poop) consistency to determine the possibility of success with closing the stoma. Between ages 1 and 5, your child may be eligible to have their stoma closed. This would require surgery to reconstruct the anus (anoplasty) and genitalia. Almost all patients who are considering closing the stoma will require bowel management through the stoma. This management may include giving an enema through the stoma to clean out the stool and/or a special diet to thicken stool. If this management is successful, then stoma closure can be considered.
Patients can choose to keep their stoma, depending on the likelihood of successful bowel management through the stoma as well as individual choice. This decision is made with the patient, family and care team, as the patient is able to participate in the decision-making process. In addition, patients may need genitalia reconstruction. The decision and timing of this treatment is unique to every patient. Often this decision is delayed until the child is ready to make this decision for themselves.
Cloacal Exstrophy Long-Term Outlook
The extent of long-term care varies based on each patient’s condition. Children with cloacal exstrophy need ongoing specialized urology, nephrology and colorectal care throughout their lives. They also need gastrointestinal care for nutrition and growth support.
Female patients may also need specialized gynecologic care. This care depends on the extent of the condition, as the care team may have safety concerns around future childbearing. Some patients may need orthopedic care for pelvic, hip or leg corrections, as well as physical therapy to support development needs.
