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Genetic and Rare Diseases Information Center (GARD)

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Prune belly syndrome


Other Names for this Disease
  • Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
  • Eagle-Barrett syndrome
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Your Question

I have a nephew who has Eagle-Barrett syndrome. I am interested in finding out what causes this to happen to babies, and surgical procedures that could fix some of the damage caused by this.  Because of my nephew, I want to be involved in some way to help facilitate more research to find out the causes of this syndrome, and how to prevent it.  If there is any information you can give on who to talk to about this, or where to start I would greatly appreciate it.

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 is known about the cause of prune belly syndrome?

The cause of prune belly syndrome is still unknown but there are two main theories reported in the literature. One theory, called the urinary tract obstruction  theory, suggests that an obstruction in the urethra early in embryonic development causes a massive dilatation of the bladder and ureters, which then forms a physical barrier to the abdominal wall musculature development, prostate development and testicular descent. Another theory, the primary mesodermal developmental defect theory, proposes that an insult occurs between 6 to 10 weeks of pregnancy that disrupts the development of the embryonic "lateral plate mesoderm" - this embryonic structure gives rise to both the abdominal wall and the genitourinary tract including the prostate. Some have suggested that these two theories should be regarded as complementary.[3] 

You can find more information on the suspected causes of prune belly syndrome at the following eMedicine Website. You may need to register to view the article but registration is free.
http://emedicine.medscape.com/article/447619-overview
Last updated: 5/18/2009

What are the surgical treatments for prune belly syndrome?

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 child's age, health, medical history, extend 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.[4]

In general, surgery may be done to repair abdominal muscle, genital, and bladder problems.[5][2] Abdominoplasty is a surgical procedure that may improve the abdominal appearance as well as respiratory, bladder, and bowel functioning.  Undescended testicle repair, also called orchiopexy,  is suggested for boys to prevent malignancy and potentially promote fertility.  Other surgeries may be suggested depending on the child's individual medical needs.  Alternatives to surgery may also be available.[3]  Antibiotics may be given to infants to treat or prevent urinary tract infections.[5] Timing of therapy may vary from patient to patient.  You can read more detailed information about surgical therapies for prune belly syndrome at the following eMedicine Web site.
http://emedicine.medscape.com/article/447619-treatment


Last updated: 5/18/2009

How can I learn more about research for prune belly syndrome and get more involved?

PubMed is a searchable database of medical literature and lists journal articles that have been published about prune belly syndrome.  Click on the PubMed link to view a sample search of the literature.

You can also learn more about how to get involved in research efforts by contacting the non-profit organization in the United States, Prune Belly Syndrome Network, Inc.

Prune Belly Syndrome Network
P.O. Box 3914
Oshkosh, WI 54903-3914
Web site: http://www.prunebelly.org

The Prune Belly Syndrome Network is holding its 10th Annual Convention in Milwaukee, Wisconsin from July 28 - 31, 2009.  Please visit the Network's Web site to learn more. 
Last updated: 3/1/2010

References