Berdon syndrome

Berdon syndrome
Classification and external resources
Specialty medical genetics
OMIM 249210
DiseasesDB 32131

Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome),[1] is an autosomal recessive[2] fatal[3] genetic disorder affecting newborns. In a 2011 study of 227 children with the syndrome, "the oldest survivor [was] 24 years old."[3] The Ann Arbor News reported a five year old survivor at the end of 2015.[4] It is more prevalent in females, 7 females to 3 males,[3] 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 cause.

Walter Berdon et al. in 1976 first described[5] 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.

Genetics

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.

Several genes are known to be implicated in this syndrome: these include ACTG2, LMOD1, MYH11 and MYLK.[6]

References

  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. PMID 1785644. doi:10.1002/ajmg.1320410224.
  3. 1 2 3 Gosemann, J.H.; Puri, P. (Oct 2011). "Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.". Pediatric Surgury International. 27 (10): 1041–1046. doi:10.1007/s00383-011-2954-9.
  4. ↑ http://www.mlive.com/news/ann-arbor/index.ssf/2015/12/ann_arbor_boy_overcomes_rare_d.html
  5. ↑ Berdon, W.E.; Baker, D.H.; Blanc, W.A.; Gay, B.; Santulli, T.V.; Donavan, C. (May 1976). "Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls". American Journal of Roentgenology. 126 (10): 9579–9584.
  6. ↑ Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM (2017) Loss-of-function variants in MYLK cause recessive megacystis microcolon intestinal hypoperistalsis syndrome. Am J Hum Genet pii: S0002-9297(17)30198-2. doi: 10.1016/j.ajhg.2017.05.011


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