CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

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.

This narrative review provides an updated and systematic approach to diagnosis, assessment and management of individuals with CS.

A broad literature search was performed using PubMed/MEDLINE, Embase and CENTRAL with search terms 'CHARGE syndrome' and 'CHD7'. No time restriction was placed on the literature search; however, we particularly focused on new/emerging evidence from within the last 10 years. Published evidence was supplemented by expert opinion from authors with extensive experience caring for individuals with this rare condition.

The important role of cranial nerve dysfunction and its relevance to clinical features is explored. The review highlights several important aspects of CS which have significant impacts on quality of life and long-term health outcomes but may be missed, including vestibular function and balance, gastrointestinal dysmotility, bone health, pain and postural orthostatic tachycardia. Aspects of neurodevelopment and mental health are reviewed, with a focus on cognitive assessment and anxiety disorders and a multimodal approach to communication. Issues relating to adolescence and the transitional period are discussed, highlighting the importance of support groups and resources.