Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview

Excerpt

The purpose of this overview is to:

1. 1

   Describe the clinical characteristics of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS);

2. 2

   Review the genetic causes of MMIHS;

3. 3

   Provide an evaluation strategy to identify the genetic cause of MMIHS in a proband (when possible);

4. 4

   Review management of MMIHS;

5. 5

   Inform genetic counseling of family members of an individual with MMIHS.