Cloacal Exstrophy

Condition: Cloacal Exstrophy

Overview ("What is it?")

  • Definition:  Cloacal exstrophy is an abnormality where the muscles, skin and bones of the lower belly do not form at all. The bones of the pelvis do not meet in the middle as they do normally. The bladder and part of the intestines are exposed to the outside. The exposed bladder is split in two halves and the intestine is in the middle of the two halves of the bladder. In boys, the penis is deformed—small, split in half or even not present. In girls, the clitoris is usually split in two, and the vagina is also usually split in two small channels instead of a single one or may not be present at all.

Picture courtesy of MJArca 11/2016
  • Epidemiology
    • 1:200,000-400,000 live births
    • Boys more commonly affected than girls
    • Other abnormalities are associated with this anomaly include problems with the intestine (shorter than normal, duplicated segments, no anal opening), spine, kidney and genitals. Sometimes, there is a larger defect in the mid-abdomen with a thin covering through which one can see the inside organs. This covered defect is called omphalocele.
    • Almost 50% are premature

Signs and Symptoms ("What symptoms will my child have?")

  • Early signs:  Often, cloacal exstrophy is diagnosed on ultrasound while the baby is still developing inside the mother.

Diagnosis ("What tests are done to determine what my child has?")

  • Cloacal exstrophy is considered part of OEIS association, named after the four commonly seen abnormalities: Omphalocele, Exstrophy, Imperforate Anus (no anal opening), and Spina Bifida
    • Omphalocele (opening of muscle and skin in center of abdomen, covered by a sac)
    • Exstrophy (see above discussion)
    • Imperforate anus
    • Spina Bifida (defect in the skin and spine overlying the main nerves of the middle of the back)
  • Labs and tests
    • ECHO (heart ultrasound) looks for cardiac abnormalities
    • Ultrasound of kidneys
    • Blood test to determine genetic makeup of the child, check hormone levels of the blood, minerals

Treatment ("What will be done to make my child better?")

  • Cloacal exstrophy requires several operations over months and years. The timing, type of surgery, and result will depend on your child’s situation. Given possible severe deformities of the genitalia (vagina or penis), even gender assignment needs to be discussed thoughtfully and carefully.
  • Medicine
    • No medicine can fix cloacal exstrophy, only surgery
    • Gender assignment
      • Chromosome analysis—this determines what exactly is the genetic makeup of the baby
      • Multi-disciplinary decision with parents, endocrinologist, psychiatrist, urologist and surgeon
  • Surgery (first surgery as newborn):  Several surgeons are involved with the baby’s care including general surgeons (intestine and genitals), orthopedic surgeons (bone), urology surgeons (kidney and bladder, genitals), neurosurgeons (brain and spine), cardiac surgeons (heart)
    • Preoperative preparation
      • Complete examination and studies to look for all possible abnormalities
      • Medicine to decrease risk of infection (antibiotics) will be given
    • Initial Procedure. Goals of surgery:  Separate the intestinal system from the urinary system and close the belly.
      • Closure of omphalocele
      • Separate bladder from the intestine. The two halves of the bladder are sewed together and placed inside the belly.
      • The intestine is brought out through the muscle and skin of the belly as a colostomy so the baby can eliminate stool. A bag will be placed over the colostomy to collect stool.
      • Other procedures may be done at the same time.  If there is an opening in the spine (spina bifida), closure of the defect may need to be done at the same time.
      • Postoperative care
        • Once colostomy starts to have stool come out, the baby will be allowed to eat.
        • Teach parents how to take care of stomas and may need dressing changes
      • Risks
        • Anesthesia:  Baby will have to be completely asleep with anesthesia and breathing tube for surgery
        • Risk of bleeding
        • Infection of the wound
      • Benefits
        • Closure of the abdomen
        • Placement of the organs inside the belly
        • Separation of urine and stool
    • Pelvis procedure. Goals of surgery:  Close the ring of the pelvis.
      • The pelvis is an open ring in these babies. The hip bones will need to be cut and adjusted. The surgery is called “osteotomies”. The baby will need to be in traction for weeks after surgery. This operation is done usually several weeks or even months after the initial operation. The bladder may need to be repaired during this time as well.  It is important to do this operation so that the pelvis can support the baby as the baby grows.
    • Pull through procedure. Goals of surgery:  Establish stooling out of the bottom.
      • This is another separate procedure that may be necessary as your child gets bigger. In this procedure, the colon is brought out into the area of the buttocks so eventually, stool can come out of the region of the buttocks. Sometimes, this is not possible if the muscles of the rectum or the nerves controlling elimination of stool are damaged. The situation is different for individual children. If stooling through the buttock area is a possibility, your child’s surgeon will discuss it with you.
    • Multiple reconstructive surgeries for bladder, genital system (penis, vagina/uterus)

Home Care ("What do I need to do once my child goes home?")

  • Diet:  Usually normal for age. In cases where there is a shorter length of intestine, a special formula may be necessary for digestion.
  • Activity:  Ask doctor before allowing tummy time, but otherwise, activity is normal for age.
  • Wound care:  Surgical incisions should be kept clean and dry for a few days after surgery. Most of the time, the stitches used in children are absorbable and do not require removal. Your surgeon will give you specific guidance regarding wound care, including when your child can shower or bathe.
  • Medicines:  Medicines for pain such as acetaminophen (Tylenol) or ibuprofen (Motrin or Advil) or something stronger like a narcotic may be needed to help with pain for a few days after surgery. Stool softeners and laxatives are needed to help regular stooling after surgery
  • What to call the doctor for:  Call your doctor for worsening belly pain, fever, vomiting, problems with urination, decreased stool output or if the wounds are red or draining fluid.
  • Follow-up care:  Your child should follow-up with his or her surgeon 2-3 weeks after surgery to ensure proper post-operative healing. IT IS IMPORTANT TO KEEP ALL APPOINTMENTS WITH THE SURGEON, AS HEALING IS CRITICAL IN THE FIRST FEW MONTHS AFTER SURGERY.

Long-Term Outcomes ("Are there future conditions to worry about?")

  • Bowel obstruction:  Baby will have scar tissue in belly from surgeries. Scar tissue can cause kinking or blockage of intestine. If baby has yellow or green throw up, big belly, or does not pass gas/stool from stoma/anus, bring baby to pediatrician or surgeon or ER. Sometimes this can be treated with NG tube and IV fluids and stay in hospital. Sometimes this needs surgery to open up scar tissue and fix obstruction
  • Incontinence (cannot control need to pee and poop)
    • These babies often have problems with potty training both urine and stool. Kids may not be able to feel when they have to pee or poop. For problems with controlling stool, may usually need to be on medicines for bowel management or require other surgeries to try to keep the child clean.
    • Ideally, need several specialists as the baby grows up to achieve the best outcome possible
    • Need for multiple surgeries for genital reconstruction
  • Gender assignment. This is a complicated issue. Many factors go into the decision of gender for the baby. This will be discussed and resolved carefully with the involvement of all the specialists to have the best possible long-term result for the baby .

Updated: 11/2016
Author: Grace Mak, MD
Editors: Patricia Lange, MD; Marjorie J. Arca, MD