Hereditary enamel defects with comorbidities.

BACKGROUND

Rare genetic disorders affecting enamel pose considerable challenges for clinicians due to their scarcity, limited documentation, and variable clinical manifestations, making accurate diagnosis and effective management particularly complex. These conditions may also affect tooth number, shape, and eruption, further complicating dental rehabilitation.

TYPES OF STUDIES REVIEWED: The authors focused this review on selected syndromic disorders characterized by distinctive phenotypic features affecting teeth and other systems, with enamel defects likely to be first encountered by dental care providers. The authors' objective was to synthesize the knowledge on genetic etiologies, functional consequences, oral manifestations, and dental management strategies, complemented by means of clinical and radiographic illustrations. The authors used searches of the PubMed and Online Mendelian Inheritance in Man databases as well as critical analysis of original research, topical reviews, and case reports.

RESULTS

More than 115 genes and conditions were identified, and 8 conditions were selected for their genetic and clinical relevance. The authors integrated case descriptions and images to help readers understand these disorders and visualize their key features, including genetic etiology and clinical management. Due to the rare nature of these conditions, the authors relied on published reports featuring clinical photographs and radiographs.

CONCLUSIONS AND PRACTICAL IMPLICATIONS: Rapid advances in the genetic understanding of rare disorders affecting teeth underscore the need for dental care providers to become familiar with these conditions. Investigating their genetic basis clarifies the origins of dental anomalies and highlights the involvement of other organ systems, reinforcing the importance of recognizing these disorders as relevant beyond oral health.