obsolete rare disease with dentinogenesis imperfecta

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. People with this condition have abnormal enamel, short and narrow roots to their teeth, and can have very small dental pulps (nerve). 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 less mineralized than normal, making them prone to rapid wear, breakage, and loss. These problems can affect primary (baby) teeth alone, or both baby teeth and permanent (adult) teeth, with the primary teeth usually more severely affected. Although genetic factors are the main contributor for the condition, any environmental or systemic changes that impede calcification or metabolization of calcium can also result in anomalous dentin.