Bladder Exstrophy and Epispadias

What is bladder exstrophy?

Bladder exstrophy is a rare, complex birth defect involving the urinary, reproductive, and intestinal tracts, as well as the musculoskeletal system. During a baby’s development in the womb, the abdominal wall and underlying organs sometimes don’t fuse properly, and the infant is born with the bladder inside out and exposed on the outside of the body.

Bladder exstrophy usually involves several systems within the body, including:

  • the urinary tract
  • the reproductive tract (external genitalia)
  • pelvic skeletal muscles and bones
  • in rare cases, intestinal tracts are involved

Bladder exstrophy can result in weakened abdominal muscles and a shorter than average urethra and vagina or penis. It can present several associated challenges during care, including:

What is epispadias?

Children with bladder exstrophy also have epispadias. Epispadias occurs when the urethra fails to close normally, and the inner lining of the urethra lays flat and exposed on the top surface of the penis in boys, and between the clitoris in girls. In some cases, epispadias may be present on its own.

In isolated epispadias, the bladder is closed and covered by the lower abdominal wall muscles and skin. In some children with epispadias, there may be bony-pelvis abnormalities similar to, but not as severe as, that seen with bladder exstrophy.

Bladder exstrophy in boys

Image: Bladder exstropy in boys

Bladder exstrophy in girls

Image: Bladder exstropy in girls

What causes bladder exstrophy and epispadias?

The cause of bladder exstrophy and epispadias is unknown. Popular theories suggest a normal structure known as the cloacal membrane might overdevelop in these babies. That might prevent appropriate tissue development, ingrowth, and the joining together of the supportive lower abdominal wall structure. Some studies show a clustering of the condition in families, suggesting that there’s an inherited factor. However, the chance for parents to have another child with exstrophy of the bladder is less than one percent.

How we care for bladder exstrophy and epispadias

The experts in the Bladder Exstrophy Program at Boston Children's Hospital are dedicated to providing exceptional pediatric care. Our team includes physician specialists in urology, nephrology, orthopedic surgery, anesthesiology, radiology, and nuclear medicine, as well as nurses, social workers, and child life specialists who will care and support you and your child at every step, from diagnosis through treatment, and even after your child returns home. We are always here to answer any questions and to listen to your concerns.

We offer a variety of resources for families, including access to the Maternal Fetal Care Center (MFCC). The MFCC provides support through prenatal counseling, treatment, and follow-up for families with a confirmed or suspected fetal congenital anomaly. In addition, medical staff, social workers, child life specialists, and chaplaincy services are available to support the expectant mother and her family.

Meet Stetson

Learn about his family’s journey for answers about bladder exstrophy

Stetson, bladder exstrophy patient