Berdon syndrome

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Berdon syndrome
Other namesMegacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH syndrome, MMIHS
Berdon syndrome has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics Edit this on Wikidata

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 hypoperistalsis, 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.


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]


Berdon syndrome is generally diagnosed after birth by the signs and symptoms as well as radiological and surgical findings. It can be diagnosed in the womb by ultrasound, revealing the enlarged bladder and hydronephrosis.[7]


Long-term survival with Berdon syndrome usually requires parenteral nutrition and urinary catheterisation or diversion. Most long-term survivors also have ileostomies.[8] A multivisceral transplant (stomach, pancreas, small bowel, liver and large intestine) has also been successful.[9]


  1. ^ Online Mendelian Inheritance in Man (OMIM) 249210
  2. ^ Annerén, Göran; Meurling, Staffan; Olsen, Leif (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): 251–4. doi:10.1002/ajmg.1320410224. PMID 1785644.
  3. ^ a b c Gosemann, Jan-Hendrik; Puri, Prem (2011). "Megacystis microcolon intestinal hypoperistalsis syndrome: Systematic review of outcome". Pediatric Surgery International. 27 (10): 1041–6. doi:10.1007/s00383-011-2954-9. PMID 21792650.
  4. ^[full citation needed]
  5. ^ Berdon, WE; Baker, DH; Blanc, WA; Gay, B; Santulli, TV; Donovan, C (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 (5): 957–64. doi:10.2214/ajr.126.5.957. PMID 178239.
  6. ^ Halim, Danny; Brosens, Erwin; Muller, Françoise; Wangler, Michael F; Beaudet, Arthur L; Lupski, James R; Akdemir, Zeynep H. Coban; Doukas, Michael; Stoop, Hans J; De Graaf, Bianca M; Brouwer, Rutger W.W; Van Ijcken, Wilfred F.J; Oury, Jean-François; Rosenblatt, Jonathan; Burns, Alan J; Tibboel, Dick; Hofstra, Robert M.W; Alves, Maria M (2017). "Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome". The American Journal of Human Genetics. 101 (1): 123–129. doi:10.1016/j.ajhg.2017.05.011. PMC 5501771. PMID 28602422.
  7. ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Megacystis microcolon intestinal hypoperistalsis hydronephrosis Berdon syndrome". Retrieved 2018-03-18.
  8. ^ "Megacystis microcolon intestinal hypoperistalsis syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Retrieved 2018-03-17.
  9. ^ America, Good Morning. "This teen is living her best life after surviving a rare 18-hour transplant surgery". Good Morning America. Retrieved 2019-08-26.

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