National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Prune belly syndrome


Other Names:
Eagle-Barrett syndrome; Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
Categories:
This disease is grouped under:
Prune belly syndrome (PBS) is a condition characterized by a lack of abdominal muscles, causing the skin on the abdominal area to wrinkle and appear "prune-like"; undescended testicles in males; and urinary tract malformations. PBS is more common in males. The severity of symptoms can vary greatly from person to person. At one end of the spectrum, the condition may cause severe kidney and pulmonary (lung) problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities. The cause of PBS is unknown. Treatment varies, but usually includes surgical management of symptoms.[1][2][3]
Last updated: 8/25/2016
The severity of symptoms in individuals with prune belly syndrome can vary greatly.

Common symptoms include:[1][2][4][5]
  • Poorly developed and/or absent abdominal muscles
  • Undescended testicles in males (cryptorchidism)
  • Urinary tract problems such enlarged or blocked ureters (tubes that carry urine from the kidneys to the bladder)
  • Enlarged bladder 
  • Enlarged kidney (hydronephrosis)

Other symptoms might include:[1][2][4][5]

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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia of the abdominal wall musculature 0005199
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ] 		0006703
Congenital posterior urethral valve 0010957
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Decreased fertility
Abnormal fertility
0000144
Hydroureter 0000072
Neoplasm of the thymus 0100521
Vesicoureteral reflux 0000076
30%-79% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Chest pain 0100749
Constipation 0002019
Cough
Coughing
0012735
Decreased testicular size
Small testes
Small testis
[ more ] 		0008734
Diaphragmatic paralysis
Paralyzed diaphragm
0006597
Dysgammaglobulinemia 0002961
Dyspnea
Trouble breathing
0002094
Immunodeficiency
Decreased immune function
0002721
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Multicystic kidney dysplasia 0000003
Oligohydramnios
Low levels of amniotic fluid
0001562
Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ] 		0100540
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] 		0000010
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
5%-29% of people have these symptoms
Abnormal bleeding
Bleeding tendency
0001892
Abnormality of the uterus
Uterine abnormalities
Uterine malformations
[ more ] 		0000130
Anal atresia
Absent anus
0002023
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autoimmunity
Autoimmune disease
Autoimmune disorder
[ more ] 		0002960
Cardiac arrest
Heart stops beating
0001695
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Congenital hip dislocation
Dislocated hip since birth
0001374
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Fatigable weakness 0003473
Headache
Headaches
0002315
Increased intracranial pressure
Rise in pressure inside skull
0002516
Intestinal atresia 0011100
Intestinal malrotation 0002566
Language impairment 0002463
Neuroendocrine neoplasm 0100634
Patent ductus arteriosus 0001643
Pectus excavatum
Funnel chest
0000767
Pericarditis
Swelling or irritation of membrane around heart
0001701
Ptosis
Drooping upper eyelid
0000508
Scoliosis 0002650
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Tetralogy of Fallot 0001636
Urogenital sinus anomaly 0100779
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Vertebral segmentation defect 0003422
Volvulus 0002580
Percent of people who have these symptoms is not available through HPO
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] 		0001627
Abnormality of the skin 0000951
Autosomal recessive inheritance 0000007
Hydronephrosis 0000126
Pectus carinatum
Pigeon chest
0000768
Prune belly 0004392
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ] 		0000217
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Last updated: 7/1/2020
The underlying cause of PBS is unknown. PBS 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.[2][3]
Last updated: 8/25/2016

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The initial evaluation of the newborn with PBS requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well.[4] 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.[1][3][4] Timing of therapy may vary from patient to patient. 
Last updated: 8/25/2016
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.[3][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.[3]

Last updated: 6/10/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses in utero include megacystis/megaureter or posterior urethral valves.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • PUVs online discussion group is designed for families with children with posterior urethral valves, prune belly syndrome, VATERS, or other congenital urologic or kidney anomaly.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Prune belly syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Prune belly syndrome. MedlinePlus. 10/27/2015; http://www.nlm.nih.gov/medlineplus/ency/article/001269.htm.
  2. Prune Belly Syndrome. NORD. 2007; http://rarediseases.org/rare-diseases/prune-belly-syndrome/.
  3. Israel Franco. Prune Belly Syndrome. Medscape. April 30, 2014; http://emedicine.medscape.com/article/447619.
  4. Caldamone AA, Woodard JR. Prune belly syndrome. In: Wein et al.,. Campbell-Walsh Urology, 9th ed. Philadelphia, PA: Saunders; 2007;
  5. Natan E. Seidel, Angela M. Arlen, Edwin A. Smith, Andrew J. Kirsch. Clinical Manifestations and Management of Prune-belly Syndrome in a Large Contemporary Pediatric Population. Pediatric Urology. Jan 2015; 85(1):211-215. http://www.ncbi.nlm.nih.gov/pubmed/25444629.