Children's Hospital Colorado

Cloacal Exstrophy

What is cloacal exstrophy?

Cloacal exstrophy is a rare birth defect that affects approximately 1 in every 200,000 to 400,000 births. Babies with the condition are born with a single common channel connecting the rectum, vagina and urinary tract. Part of the large intestine usually develops outside of the abdominal cavity, with the bladder connected to it on either side, in halves. Because the colon is connected to the bladder, urine and stool can mix and there is often no anus. The penis and clitoris are usually split in two and girls may have more than one vaginal opening. Infants born with cloacal exstrophy can also have spinal abnormalities.

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What causes cloacal exstrophy?

Cloacal exstrophy occurs as an isolated event without a recognized cause. There is a higher incidence of cloacal exstrophy in families in which one member is affected as compared with the general population. However, there's no evidence to suggest that anything done by expectant parents leads to the condition.

In some cases, cloacal exstrophy is detected from a routine prenatal ultrasound. In other cases, it isn't diagnosed until birth, when physicians can clearly see the exposed organs. Once diagnosed, additional tests are used to confirm the details of each case and to design a treatment plan. These tests may include:

  • Fetal magnetic resonance imaging (MRI)
  • Computerized tomography (CT) after the baby is born
  • Endoscopy (inserting an instrument to view the inside of an organ)
  • Abdominal ultrasound (using sonography to view internal organs and assess blood flow)

For parents, the prospect of having a child with such severe birth defects can be both terrifying and overwhelming. But the good news is that while cloacal exstrophy requires multiple surgeries, most patients achieve positive outcomes.

Managing pregnancy after a cloacal exstrophy diagnosis

Because cloacal exstrophy is a high-risk condition, you will need to be monitored throughout your pregnancy. In some cases, pregnancy may be complicated by polyhydramnios (excess amniotic fluid) during the third trimester, which may trigger preterm labor and delivery. Your delivery should also be planned at our state-of-the-art facility. This way, our delivery team can address any complications should they arise and the baby will have immediate access to treatment and the best surgical professionals.

Cloacal exstrophy is treated through surgical repair after birth, usually in stages to address each defect. This requires an in-depth treatment plan to be created for your child's specific needs. The extent of cloacal exstrophy surgery required for your baby depends on the type and severity of his or her abnormalities.

In most cases, surgeons perform multiple operations over the course of several years. This approach, referred to as staged reconstruction, usually begins in the first days of life with the highest-priority procedure. Physicians usually repair the bladder, create a colostomy (an opening in the colon with an attached "bag" that allows stool to pass) and repair the abdominal wall defect.

Babies with spinal defects usually have them repaired sometime in the first few days of life. Later surgeries include urinary and genital reconstruction, as well as an operation to create a rectum and close the colostomy opening. There are no fetal interventions (surgical procedures while inside the uterus) for cloacal exstrophy.

Throughout this process, our staff helps prepare families to care for their baby at home. We also connect loved ones with support groups and other resources to help caregivers maintain their emotional and physical health.

What is the long-term outcome for babies with cloacal exstrophy?

Surgical techniques to treat this condition have improved dramatically in recent years, which means 90% to 100% of babies survive after surgery. Their quality of life and degree of need for ongoing care vary from case to case. Thanks to the advanced surgical techniques and experienced team at the Colorado Fetal Care Center, your baby will have the highest chances of living a healthy life. We'll be with you from day one to support you and your baby.

Choosing the Colorado Fetal Care Center for cloacal exstrophy treatment and support

The Colorado Fetal Care Center is a world leader in diagnosing and treating the defects associated with cloacal exstrophy. Alberto Pena, MD, a member of our team, is one of the most experienced pediatric surgeons in the world of cloacal exstrophy.

Get answers to your questions about your child's cloacal exstrophy diagnosis from top experts at the Colorado Fetal Care Center, the leader in pregnancy care.

What causes cloacal exstrophy?

The cause is unknown, and based on what we do know, it’s not preventable. (There’s no evidence to suggest that anything done by expectant parents leads to the condition.)

How will this diagnosis affect the management of my pregnancy?

The delivery should be planned in a center capable of reconstructing this complex lesion, or immediate postnatal transport to a tertiary pediatric center should be planned. The pregnancy may be complicated by polyhydramnios (excess amniotic fluid) during the third trimester, which may predispose to preterm labor and delivery. There is an increased incidence of intrauterine fetal death and stillbirth in cloacal exstrophy.

Can this be repaired while my baby is still in the uterus?

There are no fetal interventions (surgical procedures while inside the uterus) for cloacal exstrophy.

What is the long-term outcome for babies with cloacal exstrophy?

Surgical techniques to treat this condition have improved dramatically in recent years. While decades ago most babies with cloacal exstrophy died at birth or shortly thereafter, today’s modern procedures enable most to live healthy lives. Their quality of life and degree of need for ongoing care vary from case to case.

Can this happen again in a future pregnancy?

Cloacal exstrophy occurs as an isolated event without a recognized associated chromosomal abnormality (chromosomes can be considered to be the blueprints or instructions for a developing baby). There is a higher incidence of cloacal exstrophy in families in which one member is affected as compared with the general population.


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