Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Opalescent dentin
  • Dentinogenesis imperfecta without osteogenesis imperfecta
  • Opalescent teeth without osteogenesis imperfecta
  • Dentinogenesis imperfecta, Shields type 2
  • DGI 1
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Dentinogenesis imperfecta
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I would like to learn more about dentinogenesis imperfecta. How is this condition treated? How can I get in touch with others affected by this condition?



  • What is dentinogenesis imperfecta?  (Back to Top)

  • 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 Reviewed: 5/4/2009

  • What causes dentinogenesis imperfecta? (Back to Top)

  • 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 Reviewed: 5/4/2009

  • How do people inherit dentinogenesis imperfecta? (Back to Top)

  • 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 Reviewed: 5/4/2009

  • How might dentinogenesis imperfecta be treated? (Back to Top)

  • 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 Reviewed: 5/4/2009

  • How can I get in touch with other people who have dentinogenesis imperfecta? (Back to Top)

  • Although there is no support organization specific to dentinogenesis imperfecta, you can connect with others affected by this condition through the following organizations:

    MUMS National Parent to Parent Network
    150 Custer Court
    Green Bay, WI 54301
    Toll free: 877-336-5333
    Telephone: 920-336-5333
    Fax: 920-339-0995
    Email:  mums@netnet.net
    Web site:  http://www.netnet.net/mums/

    Osteogenesis Imperfecta Foundation
    804 W. Diamond Ave, Suite 210
    Gaithersburg, MD  20878
    Toll-free: 1 (800) 981-2663
    Phone: (301) 947-0083
    Email: bonelink@oif.org
    Web: http://www.oif.org/site/PageServer
    Page on dentinogenesis imperfecta: http://www.oif.org/site/PageServer?pagename=Dental

    Additional resources may be located through the Support Groups section of the resources page on this topic.
  • Last Reviewed: 5/4/2009


References  (Back)
  1. Dentinogenesis imperfecta. Genetics Home Reference (GHR). February 2007 Available at: http://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta. Accessed May 4, 2009.
  2. Barron MJ, McDonnell ST, MacKie I, Dixon MJ. . Orphanet Journal of Rare Diseases. November 2008;:. Available at: http://www.ojrd.com/content/3/1/31. May 4, 2009.
  3. Wulfsberg EA. Dentinogenesis imperfecta. Center for Craniofacial Development and Disorders, Johns Hopkins University. December 29, 2003 Available at: http://www.hopkinsmedicine.org/craniofacial/Education/DefinedArticle.cfm?MUArticleID=103&Source=Family. Accessed May 4, 2009.

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