Berdon syndrome

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Berdon syndrome
Classification and external resources
OMIM 249210
DiseasesDB 32131

Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),[1] is an autosomal recessive[2] genetic disorder affecting newborns. It is more prevalent in females, and is characterized 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.

Walter Berdon et al. in 1976 first described the condition in five female infants, two 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.


Berdon syndrome has an autosomal recessive pattern of inheritance.

Berdon syndrome is autosomal recessive, which means the defective gene is located on an autosome, and two copies of the gene - one inherited from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder.


  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 249210
  2. ^ Annerén, G.; Meurling, S.; Olsen, L. (Nov 1991). "Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature". American Journal of Medical Genetics 41 (2): 251–254. doi:10.1002/ajmg.1320410224. PMID 1785644.  edit

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