Bladder Exstrophy

What is bladder exstrophy?

Bladder exstrophy (ex-strUH-fee) is a congenital urinary abnormality in which a fetus’s urinary bladder develops outside the body. “Congenital” means the condition occurs during fetal development. The bladder can’t hold pee or function as expected, which causes urinary incontinence.

In newborns with bladder exstrophy, the skin and pelvis don’t join as expected. As a result:

• The bladder sticks out of the skin on the outside of the belly (abdomen).
• The bladder has a flat shape, instead of the typical balloon-like shape.
• Problems develop in the pelvic bones and abdominal muscles.
• The bladder may not close.

How does bladder exstrophy affect my child’s body?

Bladder exstrophy affects a baby’s urinary system. Typically, when your bladder fills with pee, nerve signals tell your brain that your bladder is full. Your bladder muscles contract (squeeze) and force pee through a tube from your bladder to the outside of your body (urethra).

With bladder exstrophy, the cloaca (clo-AY-ka) doesn’t develop as it should. The cloaca is the area where the reproductive, digestive and urinary organs come together. Babies with bladder exstrophy empty pee through an opening in their abdomens instead of through their urethras.

Is bladder exstrophy life-threatening?

Babies who have bladder exstrophy have a typical life expectancy.

What are the types of bladder exstrophy?

Bladder exstrophy is one condition in a group of congenital conditions (birth defects) that healthcare providers call bladder exstrophy-epispadias complex (BEEC). Some babies have one type of BEEC at birth. Others have multiple BEEC conditions.

Other types of BEEC include:

• Epispadias. This condition is when the urethra doesn’t form as expected.
• Cloacal exstrophy. This condition is when the bladder and part of the large intestine (colon) form on the outside of the body. It also affects the genitals.

Is bladder exstrophy rare?

Yes, bladder exstrophy is rare. It affects around 1 out of every 50,000 newborns.

What are the signs and symptoms of bladder exstrophy?

The main symptom of bladder exstrophy is that the bladder sticks out (protrudes) through an opening in your child’s belly. But bladder exstrophy can also lead to other symptoms, including:

• The bladder can’t hold as much pee.
• The belly button (navel) is lower on the abdomen.
• The anus (butthole) is lower than expected.
• Separated pubic bones.
• Undescended testicles.

In some cases, babies may also have an inguinal hernia or umbilical hernia. Hernias occur when part of the intestines bulge out of the abdominal wall. Hernias usually require surgery to put the organs back in the correct place.

What causes bladder exstrophy?

Healthcare providers and medical researchers aren’t exactly sure what causes bladder exstrophy. But there’s some evidence that genetics and environmental factors may play a role.

Risk factors for bladder exstrophy include:

• Family history. Adults who had bladder exstrophy as children have about a 1 in 70 chance of having a biological child with bladder exstrophy. The risk is higher if parents have another biological child with the condition.
• Race. Bladder exstrophy more commonly affects people who are white.
• Sex. People assigned male at birth (AMAB) are up to three times more likely to have bladder exstrophy than people assigned female at birth (AFAB).
• Fertility treatments. Using assisted reproductive technology, such as in vitro fertilization (IVF), can increase the risk of bladder exstrophy.

What are the long-term complications of bladder exstrophy?

If you don’t treat bladder exstrophy, your child will leak pee. With treatment, some children have ongoing challenges with their bladders or kidneys, including:

• Kidney infections (pyelonephritis).
• Kidney stones.

They’re also at an increased risk of developing the following conditions later in life:

• Bladder cancer.
• Sexual dysfunction.

People AFAB who had bladder exstrophy are also more likely to have high-risk pregnancies. You’ll likely need to deliver your baby through C-section.

Does bladder exstrophy cause infertility?

People AMAB often need assisted reproductive technology (such as IVF) to have biological children.

Can men with bladder exstrophy have children?

Yes, people AMAB who had bladder exstrophy can have biological children.

How is bladder exstrophy diagnosed?

In a baby born with bladder exstrophy, the bladder typically sticks through the abdominal wall at birth. Healthcare providers may use imaging tests such as an MRI (magnetic resonance imaging) or X-ray to confirm bladder exstrophy and check for other problems.

Providers may spot bladder exstrophy during an ultrasound or fetal MRI before birth. Signs that your baby may have bladder exstrophy include:

• A bladder that doesn’t empty as expected.
• Separated pubic bones.
• Smaller-than-expected genitalia.
• An umbilical cord that connects lower on the belly than expected.

How is bladder exstrophy treated?

Babies who have bladder exstrophy at birth need surgery.

Sometimes, babies have one surgery to close the abdomen and repair the urethra. This happens in the first few months of life.

Other times, they may have a three-step surgery process:

• Immediately after birth to close the pelvis (osteotomy) and bladder (bladder salvage).
• Around 6 months of age to rebuild the sex organs and urethra (epispadias repair).
• Around 4 to 5 years of age (or around potty-training age) to fix the bladder so it can hold pee (augmentation cystoplasty) until it’s time to use the bathroom.

What is the best treatment for bladder exstrophy?

Surgery is the only way to treat bladder exstrophy. The type and number of surgeries your baby needs will depend on the severity of their symptoms. Your baby’s surgeon will explain the best approach for your baby’s needs. As your child grows, they may need additional surgeries so they can hold their pee until it’s time to use the bathroom.

Can bladder exstrophy be prevented?

No, biological parents can’t prevent bladder exstrophy because there’s no apparent cause. If you have known risk factors, be sure to speak with a healthcare provider about potential testing and treatment plans.

What is the outlook for babies with bladder exstrophy?

Most babies have good long-term outcomes if they have surgery to treat bladder exstrophy. Most children who receive treatment can run, play or do any other typical activities without problems.

Some children may need additional surgeries as they grow. If your child develops kidney infections or kidney stones, their provider will treat them as necessary.

What is the life expectancy of someone with bladder exstrophy?

Bladder exstrophy isn’t life-threatening. Children with bladder exstrophy have an average life span.

What questions should I ask a healthcare provider?

You may want to ask your provider:

• Does my child have a higher risk of any other health conditions?
• What’s the best treatment for my child?
• How many surgeries will my child need?
• Are there any signs I should look out for after surgery?
• What are the chances that another biological child of mine will have bladder exstrophy?
• Are there any bladder exstrophy support groups you can recommend?

What is the syndrome associated with bladder exstrophy?

Epispadias commonly associates with bladder exstrophy.

If your child has a penis, epispadias will cause it to be shorter, wider and curve up (congenital penile curvature, or chordee). The urethral opening (meatus) also forms at the top of their penis instead of the tip.

If your child has a vagina, epispadias will cause the urethra to form between their clitoris. In addition, the clitoris can’t connect in the middle because their pubic bones are separate, and the folds of skin outside of their vagina (labial folds) don’t form as expected.

A note from Cleveland Clinic

One of the biggest fears for most parents is learning that their child has a congenital condition. You may cycle through many different emotions, including fear, anxiety and self-blame. These are normal feelings. But it’s important to remember that you didn’t do anything wrong — bladder exstrophy happens sometimes, and healthcare providers aren’t sure why. Give yourself time to understand and accept the condition. Treatment has a good success rate, and bladder exstrophy shouldn’t prevent your child from enjoying typical childhood experiences. Healthcare providers understand your feelings. They’re available to support you and offer advice every step of the way.