Berdon syndrome

Berdon syndrome, also called megacystis-microcolon-intestinal hypoperistalsis syndrome or MMIH syndrome, is a generally fatal autosomal recessive genetic disorder affecting the bladder, colon, and intestines. Affected infants present with a combination of an abnormally enlarged bladder and an unusually small colon, alongside constipation, urinary retention, greatly reduced intestinal movement, swelling of the kidneys from obstructed drainage, and dilated segments of bowel; an unusual abundance of nerve cells has also been documented throughout affected regions of the intestine. Multiple genes have been implicated in the syndrome, including ACTG2, LMOD1, MYH11 and MYLK, each involved in the smooth muscle contraction that intestines and the bladder rely on to move their contents, consistent with the syndrome's hallmark failure of normal peristalsis. The condition shows a marked gender bias, affecting roughly seven females for every three males. It was first described in 1976 by radiologist Walter Berdon and colleagues, who documented five female infants with marked bladder enlargement, some also showing kidney swelling and the outward physical appearance associated with the separate condition prune belly syndrome, a resemblance that had complicated earlier diagnosis.