The debilitating general health effects of CHARGE syndrome may be compounded by impairment in cognitive or intellectual functioning, feeding adaptation and behavioural challenges. Multiple anomalies affecting various organs systems including the cardiovascular and genitourinary systems contribute to the challenging medical management of affected persons. The acronym “CHARGE” refers to Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness.Ĭharge syndrome is a rare genetic disorder in which coloboma, choanal atresia or stenosis, cranial nerve dysfunction or anomaly and characteristic ear (external, middle or inner ear) are the major features. The history, genetic background, clinical diagnostic criteria of CS are delineated and a case report is presented. The purpose of this article was to review the genetic aspects and dental management challenges of CHARGE syndrome (CS) (OMIM #214800). Given the abnormalities frequently present in the oral and craniofacial region, the authors recommend that a team of dental and other medical specialists be involved in the management of individuals with CS. The numerous systemic problems affecting these individuals take precedence in their care, and often there is neglect of their dental concerns. The treatment was mainly preventive and, although she fed through a percutaneous endoscopic gastrostomy tube (PEG), maintenance of her oral hygiene was necessitated.Ĭonclusion: CS is a multisystem condition and the optimal care for an individual is with a specialist multidisciplinary team. She presented with many oral and craniofacial features warranting consideration by the dentist including micrognathia, hypoplastic nasal bones, cranial nerve dysfunction, bruxism, craniofacial anomalies and compromised sensory perception. The patient had a long prior history of health and developmental problems, with the correct diagnosis becoming apparent over time. She had a diagnosis of CHARGE syndrome confirmed by a Medical Geneticist from the Division of Molecular Biology and Human Genetics at the University of Stellenbosch. Case presentationĪ South African female of mixed ancestry heritage, aged 4 years, was referred for dental assessment to the Faculty of Dentistry, University of the Western Cape, in 2018. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The condition has a variable phenotypic expression. CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800).
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