Berdon syndrome - Definition and Overview

Berdon syndrome is a disorder of the newborn, most prevalent in females, characterised by constipation and urinary retention, microcolon, giant bladder (megacystis), intestinal hypoperistalis, hydronephrosis, and dilated small bowel. The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown aetiology. Authors disagree whether inheritance is autosomal dominant or recessive.

Berdon et al in 1976 first described the condition in 5 female infants, 2 of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and dilated small intestines.