bladder exstrophy
Home / Is bladder exstrophy genetic?

Is bladder exstrophy genetic?


Bladder exstrophy and epispadias is a rare congenital abnormality that occurs when the skin over the lower abdominal wall (bottom part of the stomach) is improperly formed. The bladder develops outside the fetus and the exposed bladder is dysfunctioned, resulting in urine leakage. The bladder is turned inside out.

Bladder exstrophy usually involves several systems within the body which include the urinary tract, reproductive tract, pelvic bones and muscles, and rarely the intestinal tracts.

The condition is traced along the family line. Firstborn children, a child of a parent with bladder exstrophy, or siblings of a child with bladder exstrophy have increased chances of being born with the disorder.

Bladder exstrophy happens in 1 in 40,000 births, affecting 2 to 3 times more boys than girls. A family may not have the condition more than once because the chances within a family unit are 1 bladder exstrophy in 100 births.


Bladder exstrophy & epispadias is caused by a developmental abnormality that occurs 4 to 5 weeks after conception. As the fetus grows, the cloaca does not develop properly and the cloacal membrane is not replaced by tissue that will form the abdominal muscles.

The cloacal defects can vary a lot depending on the age of the fetus when the developmental discrepancy developed. The underlying causes of this error are not known.

A cloaca is a common chamber into which some small or all of the urinary, digestive, and reproductive tract discharge their content–a “junction” box for the body systems. A cloaca exists in all human embryos for up to 4 to 6 weeks, during which it divides into the urogenital sinus and the rectum.


There are three types of exstrophy and they include:

  • Epispadias; which is the less severe form.

This affects the tube (urethra) that carries urine from the bladder to the outside of the body. There is an opening in the urethra.

  • Cloacal Exstrophy; which is a more severe form.

This affects the urethra, bladder, genitals, and bowels. In this case, the rectum, bladder, and genitals do not fully separate ad the fetus grows. These organs may not fully develop, as well as the pelvic bones. 

The kidney, spinal cord, and backbone may also be affected. Most children with this condition develop spinal abnormalities including spina bifida. 

  • Bladder Exstrophy; the commonest form.

The bladder is formed on the outside of the body. The protruded bladder is also turned inside out. Bladder exstrophy affects organs of the urinary tract, digestive system, and reproductive system. 

The abdominal wall, bladder, pelvic bones, genital organs, rectum, and anus can witness abnormalities. Babies with bladder exstrophy suffer from vesicoureteral reflux; the condition where urine reverses its flow from the bladder back up into the ureter (the tubes that connect to the kidney). Children with bladder exstrophy also have epispadias. Cloacal or bladder exstrophy is common in children born with protruding abdominal organs.


The symptoms of this disorder include the following:

  • Urine leakage from the bladder
  • Urethra not forming completely. Open urethra. This condition is called epispadias.
  • Wider than normal pubic bones. Pubic bones are not joined, leaving the hips outward.
  • Abnormal genitalia development. The penis is shorter and curved. Testicles are not well-positioned. May develop hernias (in boys). In girls, the clitoris and labia minors may be separated, and the vagina and urethra may be shorter. The uterus, fallopian tubes, and ovaries may not be affected.
  • Vesicoureteral reflux (VUR). Urine returns to the kidneys.
  • Belly button displacement or umbilical hernia. A bulge near the belly button. There may be no pain. Observable when the child is coughing or straining for a bowel movement.



Diagnosis of bladder exstrophy is often done before the baby’s birth with:

  • Ultrasound
  • MRI

Signs to look for using ultrasound or MRI include:

  • A bladder that is not filling or emptying or completely.
  • Smaller genitals than normal.
  • An umbilical cord lower than normal on the abdomen of the fetus 
  • Separated pubic bones.


Diagnosis when the baby is born. Specific characteristics are looked for, adopting physical exams, they include:

  • An open bladder 
  • Physical abnormalities in the genitals, pelvis, and abdomen.


Surgery is the main treatment for bladder exstrophy. Some children may require more than one surgery, done over several years as they are growing and developing.

First surgery takes place when the baby is only a few years old. This is a reconstructive surgery that positions the bladder back inside the body to enable it to function correctly and appear normal. Other surgeries may be put on hold until when the child is older and has bladder control. This may be around 4 to 5 years of age. Such surgeries may include:

  • Reconstruction of genitals
  • Repair of pelvic bones, as the case may be.


Factors that increase the risk of bladder exstrophy include:

  • Family history; firstborn children, children of parents with bladder exstrophy, or siblings of a child with the disorder have a greater chance of being born with this disorder.
  • More boys stand the chance of being affected than girls. The ratio stands at 2 or 3 boys to 1 girl.
  • Race; bladder exstrophy is more common among whites than in other races.
  • Use of assisted reproductive technology (ART); children born through ART have a higher risk of bladder exstrophy.
  • Maternal age; the age of parents.


A child with untreated bladder exstrophy will have urine incontinence, that is, he or she will not be able to hold urine. Such a child is also at risk of sexual dysfunction, increased risk of bladder cancer, and umbilical hernia.

Young children with bladder exstrophy may walk with their legs turned somewhat outward because of the separation of the pelvic bones. Surgery can reduce complications, but the degree of success depends on how severe the defect is, and complications such as damage to blood vessels, nerves, uterine, genitals, bladder, pelvis, may occur, among others.

Although people born with bladder exstrophy may have a normal sexual function, including the ability to bear children, pregnancy will be a high risk for both the mother and child. A planned cesarean birth may be needed.


The mortality rate of bladder exstrophy is near zero. There is a record of 98% for a 10-year survival rate, 96% for 20 years, and 91% for 35 years.


  • Can bladder exstrophy be cured?

Bladder exstrophy can be repaired with reconstructive surgery. Seek the attention of a consultant for more direction.

  • Is bladder exstrophy genetic?

ISL 1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. It has been suggested that genes may play a role. However, the report did not provide any evidence of inherited mutation that could play a role in the development of the condition.

  • Can you live without a bladder?

If you have had your bladder removed, you will need to get used to a new way to pass urine from your body. The operation called “cystectomy” is a lifelong change.

  • Can a bladder repair itself?

The bladder is a master of self-repair. When damaged by infection or injury the organ can mend itself quickly calling upon specialized cells in its lining to repair tissues and restore a barrier against harmful materials concentrated in the urine.

  • What is the cost of repairing the bladder?

The cost of bladder repair in the U.S cost between $5,000 to $10,000. The cost varies depending on the location of treatment, the severity of the condition, the specialist involved.