Dental Management of Genetic Dental Disorders: A Critical Review

Abstract

Genetic dental disorders (GDDs) can occur either isolated or as part of syndromes. Clinically, deviations in tooth shape, size, or structure, as well as the absence of multiple teeth, lead to severe dysfunction and a reduced quality of life, requiring lifelong preventive, conservative, and prosthodontic dental care. The dental management of prevalent dental diseases, such as caries or periodontitis, has been based on decades of research, whereas scientific data on the dental management of GDDs are scarce. This lack of data is challenging for dental practitioners, who must primarily rely on empirical knowledge only. Therefore, a systematic literature search and review were conducted on the dental management of common GDDs, such as ectodermal dysplasia, amelogenesis imperfecta, dentinogenesis imperfecta, periodontitis as a manifestation of rare systemic diseases, and X-linked hypophosphatemia and hypophosphatasia. The review revealed that 468 of the 9,115 retrieved publications met the inclusion criteria, with most being case reports or case series, highlighting a lack of robust clinical trials. This critical review provides a brief summary of the genetic background, key clinical signs, and treatment options for these conditions. The dominance of case reports emphasizes the need for improved reporting standards and long-term follow-up to support comprehensive data synthesis and meta-analyses. In addition, the uneven global distribution of publications suggests disparities in access to advanced dental care for GDDs. Efforts to standardize reporting and improve treatment documentation globally are crucial to addressing these challenges. In this way, information on GDD management can be improved, and statistical analyses of the data can be performed.

Keywords: amelogenesis imperfecta; dentinogenesis imperfecta; ectodermal dysplasia; hypophosphatasia; hypophosphatemia; periodontitis.

Figure 1.

Overview of the clinical and radiologic appearance of selected genetic dental disorders. Key clinical signs include missing teeth, irregular eruption patterns, and peg-shaped teeth in ectodermal dysplasia; varying enamel hardness and tooth discoloration in amelogenesis imperfecta; and enamel loss and amber to bluish-gray teeth in dentinogenesis imperfecta. Periodontitis as a manifestation of rare systemic diseases is characterized by early bone and tooth loss, whereas spontaneous tooth avitality due to altered enamel and dentin density typically occurs in X-linked hypophosphatemia. Premature tooth loss is a key sign of hypophosphatasia.

Figure 2.

The flowchart illustrates the systematic literature search, title, abstract, and full-text screening for ectodermal dysplasia (ED), amelogenesis imperfecta (AI), dentinogenesis imperfecta (DI), periodontal disease as a manifestation of rare systemic diseases (RSD), X-linked hypophosphatemia (XLH), and hypophosphatasia (HPP) (Page et al. (2021) adapted from the PRISMA 2020 flow diagram). CR, case report; CS, case series; CT, clinical trial. *References retrieved through hand search. **Exclusion criteria: foreign language, abstract unavailable, wrong year, wrong disease, wrong publication type, wrong population, animal study, in vitro, incorrect result, background article, missing dental intervention, wrong study design, genetic study. ***Exclusion criteria: no full-text publication, full text unavailable, other language, no reference to the topic, no human study, incorrect diagnosis, no dental diagnosis or intervention reported. ^†Different types of studies, that is, quality-of-life studies, genetic studies, and diagnostic studies.

Figure 3.

Overview of the regional origin of the included case reports, case series, and clinical trials with dental interventions for genetic dental disorders.

Figure 4.

Overview of the qualitative assessment of the included case reports and case series on genetic dental disorders in a total of 18 quality domains, modified according to Moga et al. (2012).