Individuals diagnosed with a rare genetic disease that affects skeletal development often have physical limitations and orofacial problems that exert an impact on oral health. The aim of the present study was to analyze the possible vulnerability to dental caries in individuals with rare genetic diseases that affect skeletal development. A paired cross-sectional study was carried out with a sample of 140 individuals [70 with rare genetic diseases affecting skeletal development: mucopolysaccharidosis (MPS) (n = 29) and osteogenesis imperfecta (OI) (n = 41) and 70 without rare diseases] and their parents/caregivers. The participants in the first group were recruited from two reference hospitals specialized in rare genetic diseases in the city of Belo Horizonte, Brazil. All participants were examined for the evaluation of breathing type, malocclusion, dental anomalies, oral hygiene and dental caries. The parents/caregivers answered a structured questionnaire addressing the individual/behavioral characteristics and medical/dental history of the participants. Statistical analysis involved the chi-square test and multiple logistic regression analysis for the dependent variable (dental caries) (α = 5%). This study received approval from the Human Research Ethics Committee of the Universidade Federal de Minas Gerais. The mean age of the individuals was 10.34 ± 6.55 years (median: 9.50 years). Individuals with inadequate oral hygiene were 4.70–fold more likely to have dental caries (95% CI: 2.13–10.40) and those with the rare genetic diseases (MPS/OI) were 2.92-fold more likely to have dental caries (95% CI: 1.38–6.17). Individuals with inadequate oral hygiene and those with MPS and OI had a greater chance of belonging to the group with dental caries. Based on the present findings, individuals with the rare genetic diseases may be considered vulnerable to caries.

Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. OI is also known as brittle bone disease.