Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
Summary
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.