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What Is Dentinogenesis Imperfecta?

Dentinogenesis imperfecta (DI) is a rare genetic disorder affecting the teeth. Recognizing the signs and symptoms, along with consulting your dental professional, will help you understand this uncommon dental condition.

What Is Dentinogenesis Imperfecta?

DI is a dental abnormality traced back to a mutation in the DSPP gene, which provides instructions for tooth development. According to the National Institutes of Health (NIH), the DSPP gene writes the blueprint for proteins to form dentin, the second layer of tooth structure located under the enamel. When the DSPP gene is mutated, the dentin does not form correctly, resulting in an abnormal 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 the appearance of the teeth, DI can make the teeth weaker than normal and therefore more prone to damage, fractures, wear and tooth loss.

3 Types of Dentinogenesis Imperfecta

There are three types of DI that can affect patients:

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

Treatment

Those who think they have the symptoms of DI should contact their dental provider for a complete assessment. Treatment for DI is generally focused first on the patient's primary teeth and includes restorative procedures, such as crowns or preventive fillings to strengthen the brittle teeth. Later in life, dental implants or dentures may be recommended as tooth replacement becomes necessary for the patient.

Under a doctor's guidance, patients can test for a genetic link to this condition and obtain an accurate diagnosis. Your dental professional can refer you to a specialized provider, and together they can help you address your specific dental needs.

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