Inherited dental anomalies – part 1: enamel defects

Enamel formation is a highly complex and regulated process. However, specific genetic mutations can cause dysregulation, resulting in defects in the enamel quantity, structure and composition. Inherited disorders such as amelogenesis imperfecta exclusively affect the formation of enamel. Nevertheless, enamel defects can also present as a feature of many inherited systemic diseases and syndromes. The defects present in a spectrum of mild to severe enamel pitting, mottling and loss of email, causing psychological and functional concerns for patients. Early diagnosis and intensive caries prevention along with a multidisciplinary specialist input are required in most cases. In this paper, we provide a comprehensive discussion of inherited enamel defects.