Dentinogenesis imperfecta

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. Mutations in DSPP change 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.

Last updated on 05-01-20

How is dentinogenesis imperfecta diagnosed?

Dentinogenesis imperfecta is diagnosed by a clinical exam that is consistent with signs of the condition. A dental X-ray is specifically helpful in diagnosing dentinogenesis imperfecta. The specific signs found in a clinical exam may differ depending on the type of dentinogenesis imperfecta:

Type I: people who have type I dentinogenesis imperfecta also have osteogenesis imperfecta. This will cause them to have other health concerns, so they will typically not be diagnosed by dental X-ray.

Type II: people who have type II dentinogenesis imperfecta will be expected to show signs such as amber or multicolored (opalescent) dentin, short roots, and missing pulp chambers of the teeth. The pulp chamber is the innermost layer of the tooth.

Type III: people who have type III dentinogenesis imperfecta will be expected to show signs such as multicolored (opalescent) primary and permanent teeth and large pulp chambers.

Last updated on 05-01-20

How do people inherit dentinogenesis imperfecta?

Dentinogenesis imperfecta is inherited in an autosomal dominant manner, which means only one changed copy of DSPP in each cell is sufficient to cause the disorder. We inherit one copy of each gene from our mother and another copy from our father. In most cases, a person who is affected with dentinogenesis imperfecta has one parent with the condition, although it is possible for the condition to occur for the first time in an individual who does not have affected parent. In these cases, the change in the gene is known as de novo because it was not inherited from either parent.

Last updated on 05-01-20

How might dentinogenesis imperfecta be treated?

The aims of treatment for dentinogenesis imperfecta are to remove sources of infection or pain, restore aesthetics, and protect teeth from wear. Treatment varies according to the age of the patient, severity of the problem, and presenting complaint. Treatment options include amalgams as dental fillings, veneers to fix the discoloration of teeth, crowns, caps, and bridges. Dentures or dental implants may be necessary if the majority of teeth are lost. Some dentists may also recommend resin restorations and teeth bleaching.

More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links:

Last updated on 05-01-20

Name: Osteogenesis Imperfecta Foundation 804 W. Diamond Ave, Suite 210
Gaithersburg, MD, 20878, United States
Phone: (301) 947-0083 Toll Free: (844) 889-7579 Email: Url:
Name: Healthy Smiles, Healthy Children 211 E. Chicago Ave., Suite 1700
Chicago, IL, 60611-2637 , United States
Phone: (312) 337-2169 Fax : (312) 337-6329 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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