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Don’t fight Dentinogenesis imperfecta alone.
Find your community on the free RareGuru App.Dentinogenesis imperfecta is a condition characterized byteeth that are translucent and discolored (most often blue-grey or yellow-brownin color). Individuals with this disorder tend to have teeth that are weakerthan normal, which leads to wear, breakage, and loss of teeth. This damage caninclude teeth fractures or small holes (pitting) in the enamel. Dentinogenesisimperfecta can affect both primary (baby) teeth and permanent teeth. Peoplewith this condition may also have speech problems or teeth that are not placedcorrectly in the mouth. Dentinogenesis imperfecta is caused by mutationsin the DSPP gene and is inherited inan autosomal dominantmanner.
According to the original classification, there are threetypes of dentinogenesis imperfecta:
Type I: occurs in people who have osteogenesisimperfecta, a genetic condition in which bones are brittle, causing them tobreak easily. People with this type of dentinogenesis imperfecta have mutationsin COL1A1 or COL1A2.
Type II: usually occurs in people without another inheriteddisorder. Some families with type II also have progressive hearing loss inolder age. Type II is the most common type of dentinogenesis imperfecta.
Type III: usually occurs in people without another inheriteddisorder. Type III was first identified in a group of families in southernMaryland and has also been seen in individuals of Ashkenazi Jewish descent.
Some researchers believe that dentinogenesis imperfecta typeII and type III, along with a similar condition called dentin dysplasia typeII, are actually just different forms of a single disorder.
Source: GARD Last updated on 05-01-20
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
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
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
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:
https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/di/
http://www.ojrd.com/content/3/1/31
Last updated on 05-01-20
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