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Diseases

Genetic and Rare Diseases Information Center (GARD)

Prune belly syndrome


Other Names for this Disease
  • Eagle-Barrett syndrome
  • Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My daughter was born with prune belly syndrome. She is missing her stomach muscles, but has no other issues. We have been told that she needs to protect her stomach from accidental injury at school.  Do you have information on treatment? Is there anything that can be done to let her live a normal life?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is prune belly syndrome?

Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like";  (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrome (PBS) is 1 in 40,000 births; 95% of cases occur in boys. The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child.  At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than  undescended testicle repair in males. The cause of the condition is unknown.[1][2]
Last updated: 5/18/2009

What causes prune belly syndrome?

The underlying cause of prune belly syndrome is unknown. Prune belly syndrome can occur in association with trisomy 18 and trisomy 21 (Down syndrome). Additionally, a mutation in the CHRM3 gene has been reported in one family with a history of prune belly syndrome. Otherwise, an underlying genetic cause has not been identified.  

There are several theories regarding the development of prune belly syndrome. Some researchers think it may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it. While other researchers consider the urinary abnormalities to be secondary to the incomplete development of the bladder.[3][4]
Last updated: 6/10/2016

What are the symptoms of prune belly syndrome?

The severity of symptoms in individuals with prune belly syndrome can vary greatly.

Common symptoms include:[2][5][6][3]
  • Poorly developed and/or absent abdominal muscles
  • Undescended testicles in males (cryptorchidism)
  • Urinary tract problems such enlarged or blocked ureters (tube that carries urine from the bladder outside the body)
  • Enlarged bladder 
  • Enlarged kidney (hydronephrosis) 

Other symptoms might include:[2][5][6][3] 

  • Cardiac defects
  • Spine malformations
  • Club foot
  • Gastrointestinal anomalies 
Last updated: 6/10/2016

How might prune belly syndrome be treated?

The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well.[2] Treatment options depend on the individual's age, health, medical history, extent of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.

In general, surgery may be done to repair abdominal muscle, genital, and bladder problems. Antibiotics may be given to infants to treat or prevent urinary tract infections.[2][5][4] Timing of therapy may vary from patient to patient. 
Last updated: 6/10/2016

What is the long-term outlook for prune belly syndrome?

The prognosis associated with prune belly syndrome varies depending several factors including the severity of the underlying tract anomaly, how well the kidneys are developed, and the likelihood of renal failure. The condition can become life threatening in severely affected children; however, mild cases might be limited to undescended testicles and a small amount of abdominal wall laxity. Studies have found that 30% of individuals with prune belly syndrome require kidney transplantation in their lifetime.[2][4]

Despite these concerns, many individuals with prune belly syndrome report having good physical and mental health as well as a good overall quality of life.[4]

Last updated: 6/10/2016

References
Other Names for this Disease
  • Eagle-Barrett syndrome
  • Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.