Pediatric Exstrophy of the Bladder and Epispadias

“Bladder exstrophy is one of the most complex conditions that we deal with in the field of pediatric urology. It takes a full team of healthcare professionals to prepare patients and their families for the procedure, ensure patient safety throughout the process, and provide the long-term follow-up care and support needed to help these children thrive. That’s what we’re dedicated to providing here at Children’s National.”

A team of specialized urologists and orthopaedists at Children’s National Health System is helping establish a new standard of treatment for children born with bladder exstrophy—a rare but serious birth defect.

What is exstrophy of the bladder?

Exstrophy of the bladder is a complex combination of disorders that occurs during fetal development. The disorder usually involves many systems in the body, including the urinary tract, skeletal muscles and bones, and the digestive system. Bladder exstrophy means that the bladder is essentially inside out and exposed on the outside of the abdomen. It occurs about five weeks after conception when the cloacal membrane fails to close over the bladder. 

Children with this condition are born with an exposed bladder protruding through the abdomen and usually experience additional abnormalities, including pelvic bone deformity, small bladder capacity, and malformed genitals. Because the bladder and other structures are exposed to the outside of the body, urine constantly trickles onto the skin causing local irritation. 

Extensive corrective surgery performed at an early age is necessary to repair the damage caused by the defect and help children achieve urinary control, normal sexual function, and a more normal physical appearance.

What is epispadias?

Epispadias, usually seen with exstrophy of the bladder, occurs when the urethral opening, which is the hollow tube that drains urine from the bladder to the outside of the body, is in an abnormal location. In boys, the opening is usually on the topside of the penis and not the tip. This is different than hypospadias where the opening is usually underneath the penis. In girls, the urethral opening may be positioned further up the urethra and may be bigger and longer than normal. Often in girls, the opening extends to the bladder.

Prevention & Risk Assessment

Prevention & Risk Assessment

One in every 30,000 children is born with bladder exstrophy, according to Hans Pohl, MD, pediatric urologic surgeon and bladder exstrophy specialist at Children’s National.

While rare, it is more common in males, it varies in severity, and the cause is unknown.

"There are few facilities in the country truly equipped to address these cases. Bladder exstrophy repair is a long, complex surgery that requires patience, precision, and experience to manage correctly," said Dr. Pohl.

He and his colleague Craig Peters, MD, chief of Surgical Innovation, Technology, and Translation in the Sheikh Zayed Institute for Pediatric Surgical Innovation, underwent specialized training in this condition at Boston Children’s Hospital before coming to Children’s National.

"Most major centers only see one or two cases of bladder exstrophy a year, but in a single year as a clinical fellow, I was able to participate in 12 bladder exstrophy procedures," Dr. Pohl said. "It was an invaluable experience, and I brought that training and focus with me to Children’s National."

Although some reports show a clustering of exstrophy of the bladder in families, suggesting an inherited factor, the chance for parents to have another child with exstrophy of the bladder is small (1 percent or less). The disorder may occur in varying degrees from mild to severe. In many cases, exstrophy of the bladder is associated with the following:

  • Widened pubic bones
  • Outwardly rotated legs and feet
  • Triangle-shaped defect in the abdomen and visibility of the membrane of the bladder that is usually bright pink
  • Abnormally-shaped abdominal muscles
  • Displacement of the umbilicus (belly button), usually above the defect
  • Umbilical hernia may be present (section of intestine protrudes through a weakness in the abdominal muscles)
  • Short, small penis with urethral opening along top of penis (epispadias)
  • Narrow vaginal opening, wide labia, and short urethra
Diagnosis

Diagnosis

Children’s National offers a new option for children born with bladder exstrophy. Instead of performing surgery immediately after birth, Hans Pohl, MD, now sends families home with explicit instructions on caring for their infants’ special needs and performs surgery at a later date before the infants are 6 months old.

This delayed surgical process also allows more time to arrange the surgery. 

There are usually three stages to the surgical repair that start when your child is as young as 48 hours old. The first stage involves internalization of the bladder and closing the abdomen. The second stage may be done as early as 6 months of age and involves repairing the epispadias and other genital abnormalities. A final surgery involves reconstruction of the urinary tract including the bladder, and other structures of the urinary tract.

To correct bladder exstrophy, Dr. Pohl works in tandem with orthopaedic surgeon Shannon Kelly, MD, a hip reconstruction specialist at Children's National.

How is exstrophy of the bladder diagnosed?

Exstrophy of the bladder can usually be diagnosed by fetal ultrasound before an infant is born. After the infant is born, exstrophy can be determined by physical examination. Your child's doctor may order other diagnostic procedures.

Treatments

Treatments

What is the treatment for exstrophy of the bladder?

Specific treatment for exstrophy of the bladder and epispadias will be determined by your child's doctor based on:

  • Your child's age, overall health, and medical history
  • The extent of the disorder
  • Your child's tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the disorder
  • Your opinion or preference

Traditionally, children born with bladder exstrophy in the greater Washington, DC, metropolitan area were transported to Children’s National immediately after birth, and surgery was performed within 36 hours.

“Infants’ bones are most malleable during this timeframe, and we saw good physical results using this approach,” Dr. Pohl said. “However, it left something to be desired, especially for the family. The baby was transferred away from the mother, so there was little time to develop an early bond, something we know is extremely important. After surgery, the infant was placed in traction for weeks, making it difficult for mothers to breast-feed or hold the baby.”

With this in mind, Children’s National began offering a new option for children born with bladder exstrophy. Instead of performing surgery immediately after birth, Dr. Pohl now sends families home with explicit instructions on caring for their infants’ special needs and performs surgery at a later date before the infants are 6 months old.

This delayed surgical process also allows more time to arrange the surgery. To correct bladder exstrophy, Dr. Pohl works in tandem with orthopaedic surgeon Shannon Kelly, MD, a hip reconstruction specialist.

Dr. Kelly focuses on correcting pelvic bone placement to support the organs, and Dr. Pohl reconstructs the patients’ bladder and genital anatomy—a process that can take up to six hours.

“I perform a procedure called innominate osteotomy, cutting the pelvis and then hinging it closed so that it can give bony coverage to Dr. Pohl’s soft tissue repair,” Dr. Kelly said. “My job is to create a structure that properly supports the reconstruction. After surgery, I help him close and put the children in casts that they’ll wear for six weeks. It’s amazing to see these children, who in some cases were extremely impaired with no recognizable genitalia, running around a year or so later like normal children.”

Children's Team

Children's Team

Providers

Departments

Departments

Urology

At Children’s National in Washington, DC, our pediatric urologists provide comprehensive care for disorders affecting reproductive and urinary organs.

Christine's Story

Patient story

"A piece of advice; if your child has surgery on the dominant hand first, be sure you budget plenty of time to be their caregiver as they will need help with homework, getting dressed, and maybe even eating."

Read More of Christine's Story