Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview

Lusine Ambartsumyan

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview

Review

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

2019 May 9.

Author

Lusine Ambartsumyan¹

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliation

¹ Seattle Children's Hospital, Seattle, Washington

PMID: 31070878
Bookshelf ID: NBK540960

Excerpt

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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Publication types

Review