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Diseases

Genetic and Rare Diseases Information Center (GARD)

Megacystis microcolon intestinal hypoperistalsis syndrome


Other Names for this Disease
  • Berdon syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
  • MMIH syndrome
  • MMIHS
Related Diseases
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Overview

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by huge abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), very small colon (microcolon) and decreased or absent intestinal movements (intestinal peristalsis). It is part of a group of conditions caused by alterations (mutations) in the ACTG2 gene. ACTG2-related disorders are a subset of visceral myopathy (a disorder that results in intestinal pseudo-obstruction which is characterised by the signs and symptoms of intestinal obstruction without any real obstruction or lesion inside but with inability of the intestines to push food through) with variable involvement of the bladder and intestine. ACTG2-related disorders are inherited in an autosomal dominant manner. Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement the baby has). Other intestinal anomalies may be present like intestinal malrotation. Many problems with the urinary tract result from the bladder dysfunction. There is no curative treatment for MMIHS and treatment is supportive. In the majority of patients total parenteral nutrition is required.[1]
Last updated: 8/19/2015

References

  1. Wangler MF. ACTG2-Related Disorders. GeneReviews. June 11, 2015; http://www.ncbi.nlm.nih.gov/books/NBK299311/. Accessed 8/19/2015.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Megacystis microcolon intestinal hypoperistalsis syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Berdon syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
  • MMIH syndrome
  • MMIHS
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.