Which feature is NOT typically associated with CHARGE syndrome?

• A. Coloboma
• B. Choanal atresia
• C. Ear abnormalities
• D. Microcephaly

Answer: (D)

CHARGE syndrome is defined by a distinct cluster of congenital anomalies, most classically remembered by coloboma, choanal atresia, and ear anomalies with deafness, along with possible heart defects, genital abnormalities, and growth/developmental retardation. Microcephaly is not a defining feature of this syndrome. So while a small head size might occur due to overall growth issues in some patients, it is not typically part of the CHARGE phenotype. The features that are characteristic—coloboma, choanal atresia, and ear abnormalities—are the ones that fit the syndrome; microcephaly does not.