CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction

CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and ear anomalies, CHARGE syndrome's diagnostic spectrum has broadened since the identification of . Variants in this gene exhibit considerable phenotypic variability, leading to the adoption of the term " disorder" to encompass a wider range of associated symptoms. Recent research has identified variants in individuals with isolated features such as autism spectrum disorder or gonadotropin-releasing hormone deficiency. In this study, we present three cases from two different families exhibiting audiovestibular impairment as the primary manifestation of a variant. We discuss the expanding phenotypic variability observed in -related disorders, highlighting the importance of considering in nonsyndromic hearing loss cases, especially when accompanied by inner ear malformations on MRI. Additionally, we underscore the necessity of genetic counseling and comprehensive clinical evaluation for individuals with variants to ensure appropriate management of associated health concerns.