The process is controlled by a regulatory network of genes including CHD7. The induction of the neural crest is determined by signalling molecules such as BMP, WNT, FGF and retinoic acid. The neural crest has multiple vertebrate derivatives, including the craniofacial skeleton, the central nervous system (CNS) and associated sensory organs, and parts of the heart. CHD7 seems to be particularly important in controlling the function of neural crest cells, which are pluripotent cells with migratory potential. The CHD7 gene is involved in control of gene expression, particularly chromatin remodelling.Ĭhanges in the CHD7 gene sequence which lead to absent or reduced protein result in disrupted chromatin remodelling, ultimately leading to the multi-organ abnormalities found in CS. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM 608892) at chromosome locus 8q12. Depending on the number of criteria identified, either a definite or a probable/possible diagnosis of CS may be assigned. The most accepted criteria are those described by Blake et al. Current clinical criteria rely on the presence of a combination of major and minor features, with the major features being more specific for CS. It is now understood that the CHARGE acronym provides an inadequate description of CS. The acronym CHARGE was conferred by Pagon et al.(1981) to describe important clinical features: Coloboma of the eye globe, Heart defects, Atresia of the nasal choanae, Retardation of growth and development, Genitourinary anomalies, and external Ear abnormalities and/or associated hearing loss. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. CHARGE syndrome is a rare genetic condition with an incidence of 1:12,000–15,000 live births. 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 condition has a variable phenotypic expression. CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800).
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