What Is Dentinogenesis Imperfecta?

DI is a dental abnormality traced back to a mutation in the DSPP gene, which provides tooth development instructions. According to the Genetic and Rare Diseases Information Center, the DSPP gene writes the blueprint for proteins to form dentin, the second layer of tooth structure located under your enamel. When the DSPP gene is mutated, the dentin does not form correctly, which results in an abnormally soft middle layer of the tooth.

DI causes teeth to appear translucent or discolored, showing gray-blue or yellow-brown undertones. This condition affects both the primary (baby) and permanent (adult) teeth. In addition to changing your teeth's appearance, DI can make the teeth weaker than usual and, therefore, more prone to damage, fractures, wear, and tooth loss.

There are three types of DI:

1. Type I DI occurs in people who also have osteogenesis imperfecta. This condition is similar in genetic origin but causes brittle bones.
2. Type II DI occurs in people without another hereditary disorder and affects primary more than permanent teeth. This may occur in people who exhibit signs of age-related hearing loss or deafness. Type II is the most common type of dentinogenesis imperfecta.
3. According to the National Organization for Rare Disorders, type III DI occurs in people without another hereditary disorder and seems to be isolated to a group of individuals in southern Maryland.

If you think you show symptoms of DI, contact your dental provider for a complete assessment. Dentinogenesis imperfecta treatment is generally focused first on the patient's primary teeth. It includes restorative procedures, such as crowns or preventive fillings, to strengthen brittle teeth. Later in life, your dental professional may recommend dental implants or dentures as tooth replacement becomes necessary.

Under a doctor's guidance, it is possible to test for a genetic link to DI and obtain an accurate diagnosis. Your dental professional can refer you to a specialized provider. Together, they can help you address your specific dental needs.

Dentinogenesis imperfecta can cause you to lose confidence in your smile. However, with a close analysis of your symptoms and help from your dental professional, you can get the treatment you need and get your smile back on track.