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Berdon's syndrome

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A syndrome of the newborn, 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.


  • W. E. Berdon, H. Grossman, D. H. Baker, A. Mizrahi, O. Barlow, W. A. Blanc:
    Necrotizing enterocolitis in the premature infant.
    Radiology, November 1964, 83: 879-887.
  • W. E. Berdon, D. H. Baker, W. A. Blanc, B. Gay, T. V. Santulli, C. Donovan:
    Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new case of intestinal obstruction in a newborn: report of radiological findings in five newborn girls.
    American Journal of Roentgenology, Leesburg, Virginia, 1976, 126: 957-964.
  • V. A. McKusick:
    Mendelian inheritance in man.
    7th edition, Baltimore, Johns Hopkins University Press, 1986, page 482, No. 15531.
    Autosomal dominant inheritance.
  • R. M. Winter, S. A. S. Knowles:
    Megacystis-microcolon-intestinal hypoperistalsis syndrome: Confirmation of autosomal recessive inheritance.
    Journal of Medical Genetics, London, 1986, 23: 3260-3262.

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