Prune Belly Syndrome

What is prune belly syndrome?

Prune belly syndrome is a rare congenital (present at birth) condition that has three main features:

• Your baby’s abdominal muscles are weak or absent. As a result, the skin on your baby’s belly is wrinkled like a prune.
• Your baby’s testicles don’t drop from inside their body into their scrotum (the delicate sac of skin under their penis).
• There are problems with how your baby’s urinary system (kidneys and bladder) formed.

The syndrome can also affect other parts of your baby’s body — including their heart, lungs, kidneys, intestines and skeletal system.

Other names for prune belly syndrome include triad syndrome and Eagle-Barrett syndrome.

How common is this condition?

Prune belly syndrome is rare. It affects about 1 in every 30,000 to 40,000 newborn babies. It mostly happens in babies assigned male at birth (AMAB) (about 95% of the cases).

What are the signs and symptoms of prune belly syndrome?

Prune belly syndrome has many signs — over 50. Symptoms vary from baby to baby. Your child’s healthcare provider will be able to make the diagnosis based on a physical exam and tests.

The most common prune belly symptoms include:

• Wrinkled or prune-like appearance of the abdominal wall. This is due to the absence or poor development of the abdominal muscles.
• Large abdomen with loops of intestine that you can see through the thin skin of the abdominal wall.
• Testicles that don’t descend into the scrotum (undescended testicles).
• Urinary system problems, including enlarged or blocked ureters, enlarged kidney, enlarged bladder and vesicoureteral reflux (backflow of urine up the urinary tract).
• Stomach and intestinal problems.
• Heart structural problems.
• Musculoskeletal abnormalities, including scoliosis and clubfoot.

What causes prune belly syndrome?

Researchers don’t know the exact cause of prune belly syndrome, but they have several theories. Some believe an abnormality in the bladder during fetal development causes the syndrome. A buildup of pee (urine) can swell your baby’s bladder, ureters and kidneys. As the bladder enlarges, it causes wasting (atrophy) of your baby’s abdominal muscles.

Other researchers believe the syndrome happens if there’s incomplete development of your baby’s abdominal muscles. Still, others believe the condition is caused by something that hasn’t been discovered yet.

Researchers also see prune belly syndrome in siblings, which may mean it’s genetic. In addition, this condition occurs in some children with trisomy 18 (Edwards syndrome) and trisomy 21 (Down syndrome).

What are the complications of this condition?

Complications of prune belly syndrome depend on the related problems. The most common complications are:

• Constipation.
• Bone deformities, such as dislocated hips or missing arms, fingers or toes.
• Urinary tract diseases.
• Infertility or cancer, due to undescended testicles.
• Underdevelopment of the lungs (pulmonary hypoplasia).
• Chronic kidney failure.

How is prune belly syndrome diagnosed?

A healthcare provider may find this syndrome during a fetal ultrasound while you’re pregnant. The ultrasound may also be able to determine if your baby has:

• Abnormal bones or muscles.
• Heart problems.
• Underdeveloped lungs.
• Stomach and intestinal problems.
• Swollen bladder.
• Enlarged kidney.

Your healthcare provider can usually tell by looking at your baby after they’re born that they have prune belly syndrome.

What tests will be done to diagnose this condition?

After your baby is born, their provider may request the following tests to confirm the condition:

• Blood tests.
• Ultrasound.
• X-ray.
• CT (computed tomography) scan.
• MRI (magnetic resonance imaging) scan.
• Voiding cystourethrogram (VCUG).

How is prune belly syndrome treated?

A healthcare provider will base your baby’s treatment plan on their unique needs. Usually, a team of specialists, depending on the organs affected, assists in developing the treatment plan. Factors they’ll consider include:

• Overall health of your baby at the time.
• Age of your baby.
• Extent of your baby’s medical problems.
• Ability of your baby to tolerate/survive certain procedures and treatments.
• Your child’s outlook for the future.
• Your (the parent’s or parents’) wishes.

Treatment will depend upon the severity of your baby’s symptoms. In the mildest of cases, some babies with prune belly syndrome may only need antibiotics to treat or prevent urinary tract symptoms.

Most babies need several surgeries to repair their abdominal walls, genitals, bladders and other urinary tract organs. Surgical procedures may include:

• Vesicostomy: A surgeon will make a small opening in your baby’s bladder through their abdomen to allow pee to drain from their bladder.
• Orchiopexy: This procedure helps your baby’s testicles descend into their scrotum.
• Cystoplasty: This is a more advanced procedure that involves complete bladder reconstruction.

In some cases, your baby may need a kidney transplant.

Can this be prevented?

There’s no known way to prevent this condition. If your baby has a urinary tract obstruction before birth, in rare cases, surgery during your pregnancy may help prevent further problems from developing.

What is the outlook (prognosis) for prune belly syndrome?

Prune belly syndrome life expectancy depends on the severity of the condition. Unfortunately, 10% to 25% of infants are stillborn or die within the first few weeks of life due to complications of the condition.

Approximately 40% of children with prune belly syndrome will have normal kidney function despite other mild urinary tract problems and can grow to have fairly normal lives.

Some children with prune belly syndrome have medical problems throughout life. About 30% of those will need a kidney transplant in their lifetimes. People living with prune belly syndrome need lifelong follow-up care to make sure there are no problems with their urinary systems. Follow-up care also helps reduce the possibility of any kidney damage.

How do I take care of my child?

If your child has a prune belly syndrome diagnosis, it’s important to find a healthcare provider who’s familiar with the condition. They can help guide you through the process of taking care of your child.

In addition, you may want to connect with other families who’ve been through a similar situation. Your provider can help you find resources and a support network. You may wish to reach out to the Prune Belly Syndrome Network.

When should my child see their healthcare provider?

Infections in the urinary system, called urinary tract infections or UTIs, are bad for people with prune belly syndrome. Call your child’s healthcare provider at the first sign of a UTI. These signs include:

• Fever or chills.
• Feeling of having to go to the bathroom more than usual.
• Strong feeling of having to pee, but little comes out.
• Burning sensation when going to the bathroom.
• Pain or pressure in the lower back or stomach.
• Cloudy or dark urine.
• Strong, bad-smelling urine.
• Blood in urine.

They should see their provider for any voiding issues or other urologic-related issues. In addition, they should see their provider annually.