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.

Mucopolysaccharidosis (MPS) is a group of rare and inherited metabolic disorders caused by the accumulation of macromolecule glycosaminoglycans inside lysosomes. Affected individuals may have dental and craniofacial tissue alterations, facilitating the development of several oral diseases. Objectives To assess, with panoramic radiographic images, the frequency of dental and maxillomandibular incidental findings among MPS individuals and compare them with non-MPS individuals. Methodology A cross-sectional study evaluating a sample of 14 MPS individuals and 28 non-MPS individuals aged from 5 to 26 years was carried out. They were matched for sex and age on a 2:1 proportion. Panoramic radiographs were assessed for the presence/absence of the following dental and maxillomandibular alterations: dental anomalies of number (hypodontia/dental agenesis, supernumerary teeth); anomalies of form (microdontia, macrodontia, conoid teeth, taurodontism, and root dilaceration); anomalies of position (impacted tooth, inverted tooth, tooth migration, partially bony teeth, complete bony teeth); periapical alterations (furcation lesion, circumscribed bone rarefaction); other alterations (radiolucent bone lesions, radiopaque bone lesions, radiopacity in the maxillary sinus, condylar hypoplasia). Differences between groups were tested by the Fisher’s exact test and chi-square test (p<0.05). Results For intrarater agreement, Kappa values were 0.76 to 0.85. The presence of supernumerary teeth (p=0.003); conoid teeth (p=0.009); taurodontism (p<0.001); impacted teeth (p<0.001); partial bony teeth (p=0.040); complete bony teeth (p=0.013); and root dilaceration (p=0.047) were statistically more frequent in MPS individuals compared to non-MPS individuals. Bone rarefaction/furcation lesions (p=0.032), condylar hypoplasia (p<0.001), radiolucent bone lesions (p=0.001), and dentigerous cysts (p=0.002) were also more frequent in MPS individuals. Conclusion The presence of specific oral manifestations is more common in MPS individuals than non-MPS individuals.

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.

Objective: Identify factors associated with the prevalence of reported bruxism in children/adolescents with Down Syndrome (DS). Methods: The study included 112 children/adolescents with DS and their parents/caregivers. Oral habits, pacifier/finger sucking, upper respiratory infections (<six months), and breathing type (nasal/buccal) were diagnosed. Reported bruxism was recorded through parents’ report (“Does your child have audible teeth grinding?”). Results: Children/adolescents 8–12 years of age were 1.15 times more likely to belong to the group with reported bruxism (1.42–3.14). Children/adolescents 5–7 years of age were 3.38 times more likely to belong to the group with reported bruxism (1.26–9.03). Children/adolescents classified as mouth breathers were 2.87 times more likely to belong to the group with reported bruxism (1.18–6.98). Conclusion: Age and mouth breathing were associated with reported bruxism. Earlier interventions should be provided in order to limit and minimize possible damage that can affect childrens’ quality of life.