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Genetic and Rare Diseases Information Center (GARD)

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Dentinogenesis imperfecta 1


Other Names for this Disease

  • Capdepont teeth
  • Dentinogenesis imperfecta Shields type 2
  • Dentinogenesis imperfecta type 1
  • Dentinogenesis imperfecta without osteogenesis imperfecta
  • Opalescent dentin
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is dentinogenesis imperfecta? 

What causes dentinogenesis imperfecta?

How might dentinogenesis imperfecta be treated?

How do people inherit dentinogenesis imperfecta?

What is dentinogenesis imperfecta? 

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. 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 is caused by mutations in the DSPP gene. This condition is inherited in an autosomal dominant fashion.[1]

Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few families with type II have progressive hearing loss in addition to dental abnormalities. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually forms of a single disorder.[1]

Last updated: 4/29/2011

What causes dentinogenesis imperfecta?

Mutations in the DSPP gene cause dentinogenesis imperfecta. 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. DSPP mutations alter the proteins made 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. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.[1]
Last updated: 4/29/2011

How might dentinogenesis imperfecta be treated?

The aims of treatment are to remove sources of infection or pain, restore aesthetics and protect posterior teeth from wear. Treatment varies according to the age of the patient, severity of the problem and the presenting complaint.[2]

Crowns, caps or other forms of dental care are the most commonly used treatments. Dentures or dental implants may be necessary if the majority of teeth are lost.[3]

More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links:
http://www.dent.unc.edu/research/defects/ditreatment.cfm
http://www.ojrd.com/content/3/1/31
Last updated: 4/29/2011

How do people inherit dentinogenesis imperfecta?

Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.[1]
Last updated: 4/29/2011

References
  1. Dentinogenesis imperfecta. Genetics Home Reference (GHR). November 2009; http://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta. Accessed 4/29/2011.
  2. Barron MJ, McDonnell ST, MacKie I, Dixon MJ. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet Journal of Rare Diseases. November 2008; http://www.ojrd.com/content/3/1/31. Accessed 4/29/2011.
  3. Wulfsberg EA. Dentinogenesis imperfecta. Center for Craniofacial Development and Disorders, Johns Hopkins University. December 29, 2003; http://www.hopkinsmedicine.org/craniofacial/Education/DefinedArticle.cfm?MUArticleID=103&Source=Family. Accessed 5/4/2009.


Other Names for this Disease
  • Capdepont teeth
  • Dentinogenesis imperfecta Shields type 2
  • Dentinogenesis imperfecta type 1
  • Dentinogenesis imperfecta without osteogenesis imperfecta
  • Opalescent dentin
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.