419 - Understanding CHARGE Syndrome: Diagnosis, Systemic Findings, and Oral Health Implications

CHARGE syndrome is a complex genetic condition caused by mutations in the CHD7 gene, resulting in a wide spectrum of congenital anomalies affecting multiple organ systems. It occurs in approximately 1 in 8,500 to 10,000 newborns and is most commonly diagnosed during the prenatal or neonatal period due to recognizable dysmorphic features and congenital defects. The syndrome is defined by the classic CHARGE acronym: coloboma, heart defects, choanal atresia, restriction of growth and development, genital abnormalities, and ear anomalies, with additional findings including cranial nerve dysfunction, feeding and swallowing difficulties, hypotonia, renal abnormalities, and orofacial clefting. Diagnosis is primarily based on the 3C triad of coloboma, choanal atresia, and abnormal semicircular canals, supported by characteristic facial features and associated systemic findings. Dental manifestations are common and include hypodontia, taurodontism, ectopic eruption, agenesis or supernumerary teeth, and a higher prevalence of cleft lip compared to cleft palate. These patients often present unique challenges in dental management due to associated cardiac defects, airway abnormalities, cranial nerve palsies, and potential resistance to sedation. A thorough understanding of the multisystem involvement of CHARGE syndrome is essential for safe and effective dental care, emphasizing the importance of interdisciplinary coordination and individualized treatment planning.