Cloacal Exstrophy

What is cloacal exstrophy?

Cloacal exstrophy is a very rare condition that affects about 1 in every 300,000 babies. Children born with this condition have several organs that have not developed or formed normally. One of the main features is that the bladder is open and split into two halves on the outside of the belly. Between these two halves, there is a piece of bowel (intestine) sticking out, which may look like a small trunk. This appearance is sometimes called the “elephant trunk” sign.

Many babies with cloacal exstrophy are also born with an omphalocele, a condition in which some abdominal organs (such as the intestines or liver) are outside the body in a sac. In this condition, the colon (large intestine) can be connected to the bladder, so urine and stool can mix. These babies are also born without an anus, so they cannot pass stool.

Other differences include how the genitals are formed. The penis is often split into two parts. Tte clitoris may be split, and there may be more than one vaginal opening.

Babies with cloacal exstrophy can also have spinal problems, such as differences in how the bones of the spine are formed.

What causes cloacal exstrophy?

Cloacal exstrophy usually happens as an isolated event without a recognized cause, and there is no evidence that anything done by expectant parents leads to the condition.

Why choose Children’s Colorado for cloacal exstrophy treatment and support

The interdisciplinary team of colorectal surgeons, urologists and gynecologists from the International Center for Colorectal and Urogential Care collaborates to provide some of the best outcomes in the world for cloacal exstrophy treatment. Our team is very experienced at treating complex colorectal and urogenital conditions like cloacal exstrophy, and by working with our fetal care center, it ensures  your baby receives the immediate care they need as soon as they enter the world.

Signs and symptoms of cloacal exstrophy 

In some cases, cloacal exstrophy is found during 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)
• Computed 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 overwhelming. But the good news is that while cloacal exstrophy requires multiple surgeries, most patients see 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 can be complicated by polyhydramnios (excess amniotic fluid) during the third trimester, which may cause preterm labor and delivery. For the best results, you should plan to deliver at a state-of-the-art facility, such as Children’s Colorado. This way, the delivery team can address any complications that arise, and the baby will have immediate access to treatment and the best surgical professionals.

How do we diagnose cloacal exstrophy

When cloacal exstrophy is suspected during pregnancy, it’s important to carefully monitor both the baby and the pregnancy. The goal is to allow the baby to grow as much as possible and reach a healthy gestational age before birth. This gives the baby the best chance for a strong start and successful treatments after delivery.

After birth, our team performs a full evaluation. This includes checking for any other possible differences or malformations, especially in the spine, heart and kidneys, since these areas can be affected as well. Early and thorough screening helps us plan the best care for your child right from the beginning.

How do we treat cloacal exstrophy?

We treat cloacal exstrophy with a surgical repair after birth, usually broken into stages to address each defect separately. This requires an in-depth treatment plan for your child's specific needs. The extent of the cloacal exstrophy surgery depends on the type and severity of their abnormalities.

In most cases, surgeons perform multiple operations over the course of several years. This approach, called a staged reconstruction, usually begins in the first days of life with the highest-priority procedure. Physicians usually repair the bladder, create an end colostomy (an opening in the colon with an attached "bag" that allows stool to pass) and repair the abdominal wall defect (omphalocele). It is crucial to preserve all the large bowel (colon) to create the colostomy and to defunctionalize this segment by creating and ileostomy (small bowel).

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 need for ongoing care vary from case to case. Thanks to the advanced surgical techniques and experienced team at the International Center for Colorectal and Urogenital Care, 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.

Frequently Asked Questions

Get answers to your questions about your child's cloacal exstrophy diagnosis from top experts at the Colorado Fetal Care Center, a leader in pregnancy care, and the International Center for Colorectal and Urogenital Care, a leader in colorectal and urogenital surgery.

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 cloacal exstrophy affect the management of my pregnancy?

Ideally, your delivery should take place in a center capable of providing the care your baby needs, or that allows you to be immediately transferred to a pediatric center after your baby is born. Your pregnancy may be affected by polyhydramnios (excess amniotic fluid) during the third trimester, which may make you more likely to experience preterm labor and delivery. You also may have an increased risk of intrauterine fetal death and stillbirth.

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

There are no surgical procedures for this condition that can be performed while your baby is still 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 after, today's modern approaches enable most to live healthy lives. Their quality of life and need for ongoing care vary from case to case.

Can cloacal exstrophy happen again in a future pregnancy?

Cloacal exstrophy happens as an isolated event and isn’t caused by a genetic abnormality. Cloacal exstrophy happens more frequently in families in which one member is affected.

Get to know our pediatric experts.

Anna Jones, MD

Ob/Gyn Obstetrics & Gynecology

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Henry Galan, MD

Maternal-Fetal Medicine, Ob/Gyn Obstetrics & Gynecology

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Frank Chow, MD

Ob/Gyn Obstetrics & Gynecology

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Karrie Villavicencio, MD

Cardiology - Pediatric, Pediatrics

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