Overview
Dentinogenesis imperfecta (DI) is a genetic disorder that affects the development of dentin – the tissue that forms the bulk of a tooth beneath the enamel. The abnormal dentin is weaker, less mineralized, and prone to wear, leading to teeth that appear translucent, amber‑colored, and easily broken.[1][2]
DI can occur as an isolated condition (often called DI‑type I) or in association with other disorders such as osteogenesis imperfecta (OI). It is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene from an affected parent can cause disease in offspring.[3]
- Who it affects: Both males and females of any ethnicity. Because it is dominantly inherited, roughly 30–50 % of affected families have an unaffected parent who carries a new mutation.[4]
- Prevalence: Estimated at