Short answer · Medically reviewed summary · Last updated: 2026-05-08
Prune Belly Syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by a triad of absent or deficient abdominal wall muscles, urinary tract malformations, and undescended testes in males. This condition primarily affects the development of the abdomen and the genitourinary system, requiring specialized multidisciplinary care from birth. What causes Prune Belly Syndrome? The exact cause of Prune Belly Syndrome remains unknown, though it is likely multifactorial.
What is Prune Belly Syndrome
What is Prune Belly Syndrome? Plain-language, medically reviewed definition plus the lived reality told by patients.
Prune Belly Syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by a triad of absent or deficient abdominal wall muscles, urinary tract malformations, and undescended testes in males. This condition primarily affects the development of the abdomen and the genitourinary system, requiring specialized multidisciplinary care from birth.
What causes Prune Belly Syndrome?
The exact cause of Prune Belly Syndrome remains unknown, though it is likely multifactorial. The primary mechanism involves an obstruction in the fetal urinary tract during early development, which leads to a massively distended bladder. This bladder enlargement stretches the abdominal wall, preventing the proper formation of muscles and often leading to secondary issues like pulmonary hypoplasia (underdeveloped lungs) due to reduced amniotic fluid.
Who is affected by Prune Belly Syndrome?
Prune Belly Syndrome is an extremely rare condition, occurring in approximately 1 in 30,000 to 40,000 live births. It predominantly affects males, with a male-to-female ratio estimated at 95:5. While the condition is typically identified at birth, the severity of Prune Belly Syndrome varies significantly among the 64 individuals currently sharing their experiences within the DiseaseMaps.org community.
What are the primary features of the condition?
The clinical presentation of Prune Belly Syndrome is defined by a distinct set of physical characteristics:
- Abdominal wall deficiency: The skin of the abdomen appears wrinkled and thin, resembling a dried prune.
- Urinary tract abnormalities: Significant dilation of the ureters, kidneys, and bladder (megacystis).
- Cryptorchidism: Failure of the testicles to descend into the scrotum.
- Skeletal and pulmonary involvement: Potential for hip dislocations, clubfoot, and respiratory challenges due to restricted chest wall movement.
How is this condition different from other abdominal wall defects?
Unlike gastroschisis or omphalocele, where internal organs protrude outside the body, Prune Belly Syndrome involves the internal lack of musculature. The wrinkly appearance of the skin is the hallmark diagnostic feature that distinguishes Prune Belly Syndrome from other congenital abdominal wall anomalies.
Next steps
- Consult a pediatric urologist or a nephrologist to monitor kidney function and urinary tract health.
- Connect with the 64 members of the DiseaseMaps.org community to share experiences and coping strategies.
- Seek genetic counseling to discuss recurrence risks and understand the specific developmental history of your family.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment; always consult with a qualified healthcare provider regarding your specific condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Prune Belly Syndrome Overview.
- Orphanet: Rare disease database entry for Eagle-Barrett syndrome (ORPHA:762).
- OMIM (Online Mendelian Inheritance in Man): Entry #100100 (Prune Belly Syndrome).
- Prune Belly Syndrome Network: Patient support and clinical resource platform.
