Down Syndrome and Oral Health: Clinical Implications for Comprehensive Dental Care

Abstract

Down syndrome (DS) is the most common autosomal aneuploidy and represents the leading genetic cause of intellectual disability worldwide. It results from the presence of a third complete or partial copy of chromosome 21 and can manifest as trisomy 21, translocation, or mosaicism. This condition affects multiple systems in the body, including the neurological, endocrine, cardiovascular, and respiratory systems. It is associated with intellectual disability, psychomotor delay, language impairment, thyroid dysfunction, congenital heart defects, and obstructive sleep apnea due to anatomical anomalies and generalized hypotonia. In the orofacial region, individuals with DS typically exhibit a distinctive craniofacial phenotype, macroglossia, mouth breathing, facial hypotonia, and a tendency toward Class III malocclusion. Common dental anomalies include tooth agenesis, microdontia, enamel developmental defects, dental crowding, and rapidly progressing periodontal disease from an early age. Despite oral hygiene challenges, several studies report a lower prevalence of dental caries in this population, potentially explained by delayed tooth eruption, increased tooth wear, altered salivary composition, and elevated salivary immunoglobulin A levels. Tooth wear and bruxism are frequently observed, as are enamel defects, although these do not always correlate with increased caries risk. These findings underscore the need for comprehensive, preventive, and interdisciplinary dental care. The role of the dental professional extends beyond treatment to include health promotion, caregiver education, and the elimination of physical and attitudinal barriers that often hinder access to timely and high-quality care for this vulnerable population.