CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA-binding protein-7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features. CS is the most common genetic cause of congenital deafblindness....
Clinicians managing patients with CHARGE syndrome should review updated diagnostic criteria and multidisciplinary assessment pathways outlined in this 2026 narrative review, particularly regarding auditory and vestibular evaluation.
CHARGE syndrome involves complex hearing and vestibular deficits that fall within audiology's scope, and updated management guidance can improve multidisciplinary care coordination.
- 01CHARGE syndrome is caused by pathogenic variants (harmful changes) in the CHD7 gene.
- 02The condition affects multiple organ systems including ears, eyes, heart, and airways.
- 03The narrative review updates diagnostic criteria, assessment tools, and management strategies.
- 04Published in Journal of Paediatric and Child Health (2026).
- 05Relevant to audiologists involved in paediatric and genetic hearing-loss clinics.
CHARGE syndrome is caused by pathogenic variants in the CHD7 gene.
guidelinesupportedUpdated diagnostic and management guidelines for CHARGE syndrome are presented in this review.
studypartially supported- PMID
- 42219920
- DOI
- 10.1111/jpc.70443.
- Journal
- Journal of Paediatric and Child Health
- Publication type
- review
- Evidence level
- 5
- Population
- Individuals with CHARGE syndrome (multisystemic genetic condition)
- Intervention
- Narrative review of diagnosis, assessment, and management of CHARGE syndrome
Primary outcomes
Diagnostic criteria and approaches; Assessment strategies across organ systems; Management and treatment recommendations