CHARGE syndrome

CHARGE syndrome is a congenital disorder, usually caused by pathogenic variants in CHD7, that affects multiple organs and varies widely in its combination of features and severity.

CHD7: CHD7 is a gene that encodes a chromatin-remodeling protein involved in regulating development. Pathogenic variants in this gene account for most diagnosed cases.
Chromatin remodeling: Chromatin remodeling is the alteration of DNA packaging that changes access to genes and regulatory sequences. CHD7 helps remodel chromatin, influencing developmental gene activity.
Airway management: Airway management comprises measures that maintain or restore an open route for breathing. Choanal obstruction and cranial nerve problems can make breathing support an early priority.
Kabuki syndrome: Kabuki syndrome is a congenital disorder commonly caused by variants in KMT2D or KDM6A and associated with distinctive facial and developmental features. It can include heart, hearing, and growth problems, but has a different characteristic feature pattern and genetic basis.
Coloboma: A coloboma is a congenital gap in eye tissue caused by incomplete formation before birth. Eye coloboma is one of the characteristic findings associated with CHARGE.
CHD7 protein: The CHD7 protein is an ATP-dependent chromatin remodeler that helps regulate gene expression during development. Disrupted CHD7 protein function can alter programs needed to form multiple organs.
Cochlear implant: A cochlear implant is an electronic device that stimulates the auditory nerve to provide a sense of sound. It may help some people with CHARGE-related sensorineural hearing loss, depending on anatomy and hearing status.
22q11.2 deletion syndrome: 22q11.2 deletion syndrome is a variable congenital disorder caused by deletion of a segment of chromosome 22. Both conditions can involve heart defects and airway or feeding problems, but their usual genetic causes differ.
Choanal atresia: Choanal atresia is a congenital blockage of one or both passages connecting the nose to the throat. This airway abnormality can cause breathing and feeding difficulties in CHARGE.
Neural crest: The neural crest is a transient embryonic cell population that gives rise to diverse tissues, including parts of the face and peripheral nervous system. CHD7-dependent development affects neural crest contributions to structures implicated in CHARGE.

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