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Disease Profile

Prune belly syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

Q79.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Eagle-Barrett syndrome; Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

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]

Symptoms

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 

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.

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

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Cause

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]

Diagnosis

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.

    Treatment

    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.

    Organizations

    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.

        Learn more

        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.

            References

            1. Prune belly syndrome. MedlinePlus. 10/27/2015; https://www.nlm.nih.gov/medlineplus/ency/article/001269.htm.
            2. Prune Belly Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/prune-belly-syndrome/.
            3. Israel Franco. Prune Belly Syndrome. Medscape. April 30, 2014; https://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. https://www.ncbi.nlm.nih.gov/pubmed/25444629.

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