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Diseases

Genetic and Rare Diseases Information Center (GARD)

Megacystis microcolon intestinal hypoperistalsis syndrome


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

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). 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. It is part of a group of conditions caused by changes (mutations) in the ACTG2 gene and is inherited in an autosomal dominant manner. There is currently no cure for MMIHS and treatment is supportive. In the majority of patients total parenteral nutrition is required.[1]
Last updated: 10/28/2015

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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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
  • MMIH syndrome
  • Berdon syndrome
  • MMIHS
  • Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
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.