CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly prevalent manifestations such as cranial nerve dysfunction, vestibular...
✦ The floor
Discussion
Signed responses from readers of the wire.
Audiologists and multidisciplinary teams managing CHARGE syndrome patients should be aware of spinal involvement as an additional comorbidity, but this review does not change audiological protocols directly.
Documenting spinal involvement in CHARGE syndrome broadens the management framework for a condition that already demands audiological and vestibular expertise, reinforcing the need for multidisciplinary care.
- 01CHARGE syndrome (CHD7 gene mutations) is associated with cochlear and cranial nerve anomalies relevant to audiologists.
- 02This study reviews the prevalence and types of spinal anomalies seen in CHARGE syndrome patients.
- 03Spinal issues may compound mobility and rehabilitation challenges alongside hearing and balance deficits.
- 04Findings have implications for surgical planning and overall management in a multidisciplinary setting.
- 05No new audiological interventions are proposed; relevance is contextual for holistic care teams.
Spinal involvement is a significant and under-recognized feature of CHARGE syndrome with management implications.
studypartially supported- PMID
- 42675809
- DOI
- 10.1002/ajmg.a.70279.
- Journal
- American Journal of Medical Genetics Part A
- Publication type
- review
- Evidence level
- 4
- Population
- Individuals with CHARGE syndrome (CHD7 mutations)
- Intervention
- Review of spinal involvement and management strategies
Primary outcomes
Types and prevalence of spinal anomalies in CHARGE syndrome; Management recommendations for spinal involvement