National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dentinogenesis imperfecta type 3


Other Names:
Dentinogenesis imperfecta type III; Brandywine type dentinogenesis imperfecta; Dentinogenesis imperfecta Shields type 3 ; Dentinogenesis imperfecta type III; Brandywine type dentinogenesis imperfecta; Dentinogenesis imperfecta Shields type 3 ; Dentinogenesis imperfecta, Shields type 3 See More
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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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
Percent of people who have these symptoms is not available through HPO
Anterior open-bite malocclusion
Absence of overlap of anterior upper and lower teeth
Gap between upper and lower front teeth when biting
[ more ] 		0009102
Autosomal dominant inheritance 0000006
Dentinogenesis imperfecta 0000703
Periapical bone loss
Dark spot around tooth root on x-ray
0000700
Shell teeth 0000694
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Last updated: 7/1/2020
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
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

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Dentinogenesis imperfecta type 3. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dentinogenesis imperfecta type 3. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer


  1. Dentinogenesis imperfecta type 3. Orphanet. September 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265.
  2. Dentinogenesis Imperfecta Type III. National Organization for Rare Disorders (NORD). 2006; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dentinogenesis%20Imperfecta%20Type%20III. Accessed 2/19/2009.
  3. Dentinogenesis imperfecta. Genetics Home Reference (GHR). November 2009; http://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta. Accessed 9/29/2015.