CHARGE syndrome

CHARGE syndrome is a complex genetic disorder whose name is an acronym for its major features: Coloboma of the eye, Heart defects, Atresia of the choanae (blockage of the nasal passages), Retardation of growth and/or development, Genital abnormalities, and Ear anomalies including deafness. It is caused in the majority of cases by pathogenic variants in the CHD7 gene, which encodes a chromodomain helicase DNA-binding protein critical for embryonic development. The condition affects multiple organ systems simultaneously, and the clinical presentation is highly variable even among individuals carrying the same genetic variant. Key clinical features include ocular coloboma (which can affect the iris, retina, or optic nerve and may impair vision), congenital heart defects (such as tetralogy of Fallot, atrioventricular canal defects, and aortic arch anomalies), choanal atresia or stenosis causing breathing and feeding difficulties in newborns, and characteristic ear abnormalities including short, wide ears with little or no earlobe, semicircular canal hypoplasia or aplasia, and sensorineural or mixed hearing loss. Cranial nerve dysfunction is common and can lead to facial palsy, swallowing difficulties, and anosmia (absent sense of smell). Genital hypoplasia, particularly in males (micropenis, cryptorchidism), and delayed puberty are frequently observed. Growth retardation and intellectual disability of variable degree are also common, though some individuals have normal intelligence. There is no cure for CHARGE syndrome, and management is multidisciplinary. Treatment focuses on addressing individual manifestations: surgical repair of choanal atresia and congenital heart defects, cochlear implantation or hearing aids for hearing loss, hormone therapy for hypogonadism, and developmental support including speech therapy, occupational therapy, and educational interventions. Early identification and coordinated care by specialists in cardiology, otolaryngology, ophthalmology, endocrinology, and genetics significantly improve outcomes and quality of life.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about CHARGE syndrome