Cloacal Exstrophy (OEIS Syndrome)

Cloacal exstrophy (OEIS Syndrome) is a rare and complicated condition that affects the lower abdominal wall structures of infants In utero, occurring in 1 out of 200,000 pregnancies and 1 in 400,000 live births.  It is often diagnosed prenatally (before birth) by a fetal ultrasound and confirmed at the time of birth.

In infants born with this condition, the development of the lower abdominal wall (ventral) is interrupted during its normal embryonic migration and folding leaving many of the inner-abdominal structures exposed. These structures include the bladder, intestines and reproductive organs. 

The pattern of inheritance for Cloacal exstrophy is unknown due to the small number of patients.

Symptoms

Four features of Cloacal exstrophy are frequently found together, and referred to as an OEIS Complex

Omphalocele

The omphalocele may be a large protrusion outside the cavity of the abdomen, involving several organs including the spleen, liver and intestine. It may also be small where only a portion of the intestine protrudes from the abdominal cavity.

Exstrophy of the bladder and rectum

Development of the bladder In utero is separated into two halves and open. The colon and rectum are also open with a segment of the rectum situated between the halves of the bladder and located on the surface of the abdomen.

Imperforate anus

A congenital birth defect, the anus of a new born has not been formed at birth (perforated) and the colon may connect to the urethra, bladder or vagina through a fistula (small tract).

Spinal defects

Infants with cloacal exstrophy often are born with further spinal complications including spina bifida.

Diagnosis

Cloacal exstrophy is usually diagnosed with fetal ultrasound. It is confirmed upon birth during physical exam.

Treatments

Cloacal exstrophy is a condition that requires surgical repair.

Our multidisciplinary team of surgeons (pediatric general surgeons, pediatric urologists, pediatric orthopedists) will create a treatment plan based on the type and the extent of your child’s condition. Treatment may include:

  • Staged reconstruction - This method of treatment addresses the condition through a series of surgeries over a period of time. The timing and outcome of these surgeries will vary depending on your child's particular condition. Your surgeon will discuss a plan unique with your situation.
  • Abdominal repair - Soon after birth and confirmation of the condition, pediatric surgeons will operate to repair the omphalocele by closing the bladder halves, creating a colostomy for the elimination of stool. The colostomy procedure involves bringing the end of the large intestine to the surface of the skin and through a small, permanent, opening in the abdomen so that a colostomy pouch can be attached for the collection of stool.

After this first surgery, your child will remain in the hospital so that we may monitor the intestine as it functions. Our healthcare team will work with you and your family to develop an ongoing plan for your child that is clear giving you the help, support and information for ongoing care.

Once this initial procedure has healed sufficiently, orthopedic surgeons on our team may perform osteotomies, where the hip bones are cut and brought together, to ensure that your child's pelvis may be brought together to support the bladder.

Subsequent surgeries may also involve major anorectal and urinary reconstructive surgery and further genital reconstruction.  

One surgery that may be considered when your child is a toddler or older, is a “pull-through” procedure.  If your child is capable of forming solid stool and was born with a significant amount of colon, a pull-through procedure may, at some point, be feasible to be performed.

This procedure places the colon within the anal sphincter complex, so as to reconstruct the proper stool elimination anatomy.

The goals of treatment include an anatomic reconstruction and achieving bowel and urinary control, as well as normal sexual function.  These procedures and issues will be discussed by your physician as your child grows up.