This PedsCases Note provides a one-page infographic on CHARGE Syndrome, a rare pattern of malformations affecting multiple organ systems caused by a mutation in the CHD7 gene. It was created by Katharine Jensen with the help of Dr. Karen Forbes.

Click on the image below for the full-screen PDF handout

Related Content

• Note: VACTERL Association
• Podcast: Congenital Congestive Heart Failure

References:

1. National Organization for Rare Disorders. "CHARGE Syndrome." National Organization for Rare Disorders. Web. 20 July 2024. <https://rarediseases.org/rare-diseases/charge-syndrome/\>
2. Elsevier. "Selected Topics in Genetics and Dysmorphology." Smith's Recognizable Patterns of Human Malformation, 8th ed., Elsevier. Web. 20 July 2024. <https://bookshelf.health.elsevier.com/reader/books/9780323547703/epubcfi...