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Diseases

Genetic and Rare Diseases Information Center (GARD)

Dentinogenesis imperfecta type 3


Other Names for this Disease
  • Dentinogenesis imperfecta type III
  • Brandywine type dentinogenesis imperfecta
  • Dentinogenesis imperfecta Shields type 3
  • Dentinogenesis imperfecta, Shields type 3
Related Diseases
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Your Question

My daughters are affected by dentinogenesis imperfecta type III. I have taken them to many dentists in an attempt to get them help. Can you provide information regarding how to correct their teeth?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is dentinogenesis imperfecta type 3?

Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Dentinogenesis imperfecta type 3 is caused by changes (mutations) in the DSPP gene which are inherited in an autosomal dominant manner.[1] Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.[2]
Last updated: 10/30/2015

What causes dentinogenesis imperfecta type 3?

Dentinogenesis imperfecta type 3 is caused by changes (mutations) in the DSPP gene. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. Mutations in DSPP alter the proteins encoded from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break.[3]
Last updated: 10/30/2015

Is dentinogenesis imperfecta type 3 inherited?

Dentinogenesis imperfecta type 3 is inherited in an autosomal dominant manner.[3] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with dentinogenesis imperfecta type 3 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated: 10/30/2015

How might dentinogenesis imperfecta type 3 be treated?

Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.[2]

The following article featured in the Orphanet Journal of Rare Diseases offers more specific details regarding the treatment of dentinogenesis imperfecta. Please click the link to access this resource.
Last updated: 10/30/2015

References
Other Names for this Disease
  • Dentinogenesis imperfecta type III
  • Brandywine type dentinogenesis imperfecta
  • Dentinogenesis imperfecta Shields type 3
  • Dentinogenesis imperfecta, Shields type 3
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.