Cloacal Exstrophy | Overview
What is cloacal exstrophy (OEIS Syndrome)?
Cloacal exstrophy, also known as OEIS Syndrome, occurs when a portion of the large intestine lies outside of the body, and on either side of it —and connected to it — are the two halves of the bladder. In boys, the penis is usually flat and short, with the exposed inner surface of the urethra on top. The penis is sometimes split into a right and left half. In girls, the clitoris is split and there may be one or two vaginal openings. Cloacal exstrophy (OEIS syndrome) is a very rare birth defect, affecting 1 in every 250,000 births. Although cloacal exstrophy is a serious condition and requires a series of operations, the long-term outcome is good for many children.
What are the signs of cloacal exstrophy?
In cloacal exstrophy, a baby’s bladder is open in the front and the inner surface is exposed on the lower surface of the abdominal wall. The exposed bladder appears as a right and left half, with the large intestine exposed and connected in the middle. This abnormal connection of the intestine and the bladder allows mixing of stool and urine. Cloacal exstrophy can occur as part of OEIS syndrome, which includes an omphalocele, extrophy, imperforate anus and spinal defects. In an omphalocele, some of the abdominal organs protrude through an opening in the lower abdominal wall muscles in the area of the umbilical cord. A translucent membrane covers the protruding organs. The omphalocele may be small, with only a portion of the intestine protruding, or large, with most of the abdominal organs (including intestine, liver and spleen) protruding outside of the body. In an imperforate anus, the anus has not been formed, and the colon connects to the bladder. Sometimes intestine is also present behind the bladder that is not in continuity. Spinal defects may either be major or minor. Many times, children born with cloacal exstrophy are also born with varying degrees of spina bifida.
What causes cloacal exstrophy?
The cause of cloacal exstrophy is unknown. It does not appear that any medications or activities of the expectant parents have any impact on the development of cloacal exstrophy. Based on our current knowledge, it is very unlikely that this condition can be prevented.
How we care for cloacal exstrophy
Cloacal exstrophy is corrected through a series of operations. The clinicians at the Colorectal and Pelvic Malformation Center at Boston Children’s Hospital have extensive experience in cloacal exstrophy repair and supporting you and your baby throughout the process. Our multidisciplinary team of physicians works together in coordinating initial surgical repair as well as long term follow-up and reconstructive needs.
Cloacal Exstrophy | Diagnosis and Treatment
How is cloacal exstrophy diagnosed?
In some instances, cloacal exstrophy (OEIS Syndrome) can be diagnosed before birth with a prenatal ultrasound, which may be confirmed by magnetic resonance imaging (MRI). After birth, your baby’s doctor can make or confirm this diagnosis with a physical examination.
Other diagnostic tests and procedures can include:
- Magnetic resonance imaging (MRI)
- Examination under anesthesia and endoscopy. This involves the insertion of a small instrument called an endoscope to view the interior of a hollow organ, such as the rectum, urethra or vagina
- Abdominal ultrasound (sonography). This imaging method is used to view the anatomy of the internal organs as they function, and to assess blood flow
How is cloacal exstrophy treated?Cloacal exstrophy requires surgical repair. The treatment plan devised for your child will depend on the type and the extent of the abnormality.
This is a multi-step treatment involving several operations over a number of years. Advances in surgical techniques have enabled our team of surgeons to collaborate on the reconstructive process to minimize the number of stages involved.
The exact timing, nature, and outcome of these procedures will depend on your child's particular situation. Your surgeon will discuss with you the plan for your child and how successful you can expect it to be.
Within the first 24 to 48 hours after your child is born, surgery will likely be performed to repair the omphalocele, to return the protruding organs to the abdomen and close the opening in the abdominal wall. The surgeons will work as a team and include a pediatric urologist and a pediatric colorectal surgeon.
If possible, the surgeons will separate the bladder from the bowel, potentially close the bladder and create a way for your child to eliminate stool. Once the bowel is separated from the bladder, it is made into a tube. Usually, any other bowel that is present is put into continuity with this tubularized bowel (a procedure called a Hindgut rescue). Usually, an end stoma is created so that stool from the intestines pass into a collection bag. This allows for the normal separation of the urine and stool evacuation. Your baby's digestion will not be impaired after the ostomy.
Your child may also need to have a catheter passed intermittently in order to help eliminate urine or a surgical procedure to reroute urine flow.
Some spinal defects may also need to be repaired. These may be treated with surgery in the first months of life.
If you are visiting us for a second opinion after the initial surgery, sometimes a hindgut rescue procedure maybe needed. Our team will do a careful examination under anesthesia with possible scoping procedures to determine if further surgery is necessary.
The next step is to get your child healthy enough to go home. This involves allowing your child to heal from the operation. It may also involve allowing your child to grow if he or she was born prematurely and making sure you are prepared to take care of your child's extra needs both physically and emotionally.
The nursing staff and other health care professionals that work with your baby's surgeon can help you learn to take care of the colostomy. Local and national support groups may also be of help during this time.
Depending on the amount of colon your child was born with and the nerve and muscle function in your baby's bottom, surgeons may eventually create a rectum and close the stoma. If your child has a significant amount of colon and is able to form solid stool, a surgical procedure known as a "pull-through" may eventually be performed. This surgery involves opening the abdomen to connect the colon to the rectum.
Subsequent procedures will also involve major urinary reconstructive surgery and further genital reconstruction.