QUAD #22: What is CHARGE syndrome? with Dr. Catherine Hart

The CHARGE acronym stands for coloboma, heart defects, atresia of the choana, retardation of growth and development, genital and/or urinary anomalies, and ear malformations.

CHARGE syndrome is caused by a CHD7 mutation on chromosome 8.

A population of children with CHARGE syndrome will have a negative test for CHD7 but can still have CHARGE syndrome based on clinical criteria.

To make the diagnosis of CHARGE syndrome, you must have at least two of the major criteria.

The major criteria for CHARGE syndrome are coloboma, choanal atresia or cleft palate, characteristic ear abnormalities, and cranial nerve abnormalities.

If you have the major criteria, you have CHARGE syndrome independent of other clinical features.

To make a definitive clinical diagnosis of CHARGE syndrome, you need either 3 major features and at least 1 minor feature, or 2 major features and 2 minor features, or the CHD7 mutation.