Who's speaking
- Speaker 1 — guest
- Dr. Catherine Hart — guest
- Speaker 3 — host
Chapters
- 0:00CHARGE Syndrome Definition and Diagnostic Criteria — Overview of CHARGE syndrome acronym, genetic basis via CHD7 mutation, and clinical diagnostic criteria requiring combinations of major and minor features.
Key claims
- 0:00CHARGE acronym stands for coloboma, heart defects, atresia of the choana, retardation of growth and development, genital and/or urinary anomalies, and ear malformations — Speaker 1
- 0:11CHARGE syndrome is caused by a CHD7 mutation on chromosome 8 — Dr. Catherine Hart
- 0:11A population of children with CHARGE syndrome will have a negative test for CHD7 — Dr. Catherine Hart
- 0:20CHARGE syndrome can be diagnosed based on clinical criteria even without CHD7 mutation — Dr. Catherine Hart
- 0:24Diagnosis requires at least two major criteria — Speaker 1
- 0:28Major criteria are coloboma, choanal atresia or cleft palate, characteristic ear abnormalities, and cranial nerve abnormalities — Speaker 1
- 0:41Definitive clinical diagnosis requires either 3 major features and at least 1 minor feature, or 2 major features and 2 minor features, or CHD7 mutation — Dr. Catherine Hart
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