Prune belly syndrome

Prune belly syndrome is a rare congenital disorder of the urinary system that affects about one in 40,000 births and occurs almost exclusively in males. It is defined by a triad of features: partial or complete absence of the abdominal wall muscles, leaving wrinkled folds of skin across the belly that give the syndrome its name; undescended testicles; and abnormalities of the urinary tract, including enlarged ureters, a distended bladder and backflow of urine toward the kidneys. Affected infants often develop recurrent urinary tract infections, and some also have heart defects, intestinal malrotation or clubfoot. A mutation in the CHRM3 gene has been identified in some autosomal recessive cases, though most cases arise sporadically. There is no cure; treatment manages the urinary, orthopedic and reproductive complications as they arise.