Prune belly syndrome

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ORPHA:2970OMIM:100100Q79.4
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Show terms as
1Active trials11Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome or triad syndrome, is a rare congenital condition characterized by three cardinal features: deficiency or absence of the abdominal wall musculature (giving the abdomen a wrinkled, prune-like appearance), bilateral cryptorchidism (undescended testes) in males, and urinary tract abnormalities including megacystis (enlarged bladder), dilated ureters (megaureters), and hydronephrosis. The condition predominantly affects males, accounting for approximately 95% of cases. The urinary tract abnormalities are the most clinically significant aspect of the syndrome, as they can lead to recurrent urinary tract infections, vesicoureteral reflux, and progressive renal impairment that may ultimately result in end-stage kidney disease. The deficient abdominal musculature can cause respiratory complications due to impaired cough mechanics and difficulty with pulmonary clearance. Additional associated anomalies may include cardiac defects, gastrointestinal malformations (such as intestinal malrotation), and musculoskeletal abnormalities including hip dysplasia and clubfoot. The severity of the condition varies widely, ranging from a lethal form with renal dysplasia and pulmonary hypoplasia (often associated with oligohydramnios) to milder presentations compatible with a relatively normal life. Treatment is multidisciplinary and depends on the severity of the condition. Management of urinary tract abnormalities may include prophylactic antibiotics to prevent infections, intermittent catheterization, and surgical reconstruction of the urinary tract (such as ureteral reimplantation or vesicostomy). Orchiopexy is performed to bring undescended testes into the scrotum. Abdominoplasty may be considered to improve abdominal wall function and cosmetic appearance. In severe cases with renal failure, dialysis or kidney transplantation may be necessary. Early diagnosis, often possible prenatally through ultrasound, allows for coordinated postnatal care planning.

Also known as:

Clinical phenotype terms— hover any for plain English:

Abnormality of the bladderHP:0000014HydroureterHP:0000072Congenital hip dislocationHP:0001374
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Jan 2017Functional Abdominal Wall Reconstruction

Maria Sklodowska-Curie National Research Institute of Oncology

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Prune belly syndrome.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Functional Abdominal Wall Reconstruction
Active
· Sites: Gliwice · Age: 018 yrs

Specialists

11 foundView all specialists →
MP
Michael Belfort, MD PHD
HOUSTON, TX
Specialist
PI on 2 active trials
AH
Angelica Lindén Hirschberg
Specialist
PI on 1 active trial22 Prune belly syndrome publications
MS
Marta Mydłowska, PhD student
Specialist
PI on 1 active trial
SP
Susana M Gil, MD, PhD
VAN NUYS, CA
Specialist
PI on 1 active trial
TP
Tiffany M Stewart, PhD
Specialist
PI on 1 active trial
HP
Hend Reda, PhD
Specialist
PI on 1 active trial
AP
Anders sjödin, Assoc prof
Specialist
PI on 1 active trial
KP
Katherine SF Brooke-Wavell, PhD
Specialist
PI on 1 active trial
EP
Emma O'Donnell, PhD
CLEVELAND, OH
Specialist
PI on 1 active trial
RP
Richard C Blagrove, PhD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Prune belly syndrome.

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Common questions about Prune belly syndrome

What is Prune belly syndrome?

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome or triad syndrome, is a rare congenital condition characterized by three cardinal features: deficiency or absence of the abdominal wall musculature (giving the abdomen a wrinkled, prune-like appearance), bilateral cryptorchidism (undescended testes) in males, and urinary tract abnormalities including megacystis (enlarged bladder), dilated ureters (megaureters), and hydronephrosis. The condition predominantly affects males, accounting for approximately 95% of cases. The urinary tract abnormalities are the most clinically signific

At what age does Prune belly syndrome typically begin?

Typical onset of Prune belly syndrome is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for Prune belly syndrome?

Yes — 1 recruiting clinical trial is currently listed for Prune belly syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Prune belly syndrome?

11 specialists and care centers treating Prune belly syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.