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
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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.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
Last updated: 8/19/2015
- 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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