Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.


The purpose of this overview is to increase the awareness of clinicians regarding megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and its genetic causes and management. The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of MMIHS.

Goal 2: Review the genetic causes of MMIHS.

Goal 3: Provide an evaluation strategy to identify the genetic cause of MMIHS in a proband (when possible).

Goal 4: Inform genetic counseling of family members of an individual with MMIHS.

Goal 5: Review management of MMIHS.

Publication types

  • Review