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.
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