Dentinogenesis imperfecta

Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP). It is one of the most frequently occurring autosomal dominant features in humans. Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people.

This condition can cause teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent, giving teeth an opalescent sheen. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect baby (primary/deciduous) teeth alone, or both baby teeth and adult (permanent) teeth, with the baby teeth usually more severely affected.

Although genetic factors are the main contributor for the disease, any environmental or systemic upset that impedes calcification or metabolisation of calcium can also result in anomalous dentine.