ORPHA:2970
Prune belly syndrome
Also known as: Abdominal muscle deficiency syndrome · Eagle-Barret syndrome · Obrinsky syndrome · Triad syndrome
Clinical definition (Orphanet)
A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
2,157
2,157 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
2,157 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
873 in the last 10 years · low confidence
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
low confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CHRM3).
GenCC classification: Strong.
Who's working on it?
1,071
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Dénes FT6 papers · 2026
Uropediatric Unit and Division of Urology, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 02Favorito LA6 papers · 2025
Urogenital Research Unit, State University of Rio de Janeiro, Brazil. Electronic address: lufavorito@Yahoo.com.br.
Papers in Europe PMC - 03Lopes RI6 papers · 2026
Uropediatric Unit and Division of Urology, Faculdade de Medicina, Hospital das Clínicas, Universidade de São Paulo, São Paulo, Brazil. Electronic address: robertoiglesias@terra.com.br.
Papers in Europe PMC - 04Sampaio FJB6 papers · 2025
Urogenital Research Unit, State University of Rio de Janeiro, Brazil.
Papers in Europe PMC - 05Baker LA5 papers · 2025
University of Texas Southwestern Medical Center at Dallas Children's Health, Dallas, USA.
Papers in Europe PMC - 06Berg C4 papers · 2025
Division of Prenatal Medicine, Fetal Surgery and Gynecological Ultrasound, Department of Obstetrics and Gynecology, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 07Chua M4 papers · 2024
Global Surgery, Department of Surgery, University of Toronto, Toronto, ON, Canada.
Papers in Europe PMC - 08Rickard M4 papers · 2024
Division of Urology, Department of Surgery, Hospital for Sick Children, Toronto, ON, Canada.
Papers in Europe PMC - 09
- 10Gottschalk I3 papers · 2024
Division of Prenatal Medicine, Fetal Surgery and Gynecological Ultrasound, Department of Obstetrics and Gynecology, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany. ingo.gottschalk@uk-koeln.de.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Prune belly syndrome" OR "Abdominal muscle deficiency syndrome" OR "Eagle-Barret syndrome" OR "Obrinsky syndrome" OR "Triad syndrome" OR "Obrisnksy syndrome" OR "syndrome of agenesis of abdominal muscles"
MeSH descriptor terms unioned into the query: Prune Belly Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Prune belly syndrome" OR "Abdominal muscle deficiency syndrome" OR "Eagle-Barret syndrome" OR "Obrinsky syndrome" OR "Triad syndrome" OR "Obrisnksy syndrome" OR "syndrome of agenesis of abdominal muscles" OR "syndrome of the agenesis of the abdominal muscles" OR "CHRM3"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D011535 OMIM:100100 UMLS:C0033770 NCIT:C85033
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2157) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity