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 do not 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, reproductive tract (external genitalia), and 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 cause a variety of complications and problems, including incontinence, catheterization, reflux, infertility, and the need for repeated reconstructive surgery. It may be associated with urinary incontinence and back up of urine from the bladder to the kidneys, called vesicoureteral reflux.

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 surface of the penis. 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.

What causes exstrophy of the bladder?

The cause of bladder exstrophy is unknown. Some studies show a clustering of the condition in families, suggesting that there’s an inherited factor. Popular theories suggest overdevelopment of a normal structure known as the cloacal membrane. Overdevelopment or prolonged presence of the cloacal membrane may prevent appropriate tissue development, ingrowth, and the joining together of the supportive lower abdominal wall structure. 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 Boston Children's Hospital Bladder Exstrophy Program is dedicated to providing exceptional pediatric care. Our team include physicians, 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 or listen to concerns.

We offer a variety of resources for families, including 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

Read his story

Stetson, bladder exstrophy patient