What are the other Names for this Condition? (Also known as/Synonyms)

• Capdepont Teeth
• Dentinogenesis Imperfecta without Osteogenesis Imperfecta

What is Dentinogenesis Imperfecta? (Definition/Background Information)

• Dentinogenesis Imperfecta is a condition characterized by teeth that are translucent and discolored (most often blue-grey or yellow-brown in color)
• Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth. This damage can include teeth fractures or small holes (pitting) in the enamel
• Dentinogenesis Imperfecta can affect both primary (baby) teeth and permanent teeth. People with this condition may also have speech problems or teeth that are not placed correctly in the mouth
• Dentinogenesis Imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner
• According to the original classification, there are three types of Dentinogenesis Imperfecta:
  • Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. People with this type of Dentinogenesis Imperfecta have mutations in COL1A1 or COL1A2
  • Type II: usually occurs in people without another inherited disorder. Some families with type II also have progressive hearing loss in older age. Type II is the most common type of Dentinogenesis Imperfecta
  • Type III: usually occurs in people without another inherited disorder. Type III was first identified in a group of families in southern Maryland and has also been seen in individuals of Ashkenazi Jewish descent
• Some researchers believe that Dentinogenesis Imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder

(Source: Dentinogenesis Imperfecta; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Dentinogenesis Imperfecta? (Age and Sex Distribution)

• Dentinogenesis Imperfecta is a rare congenital disorder. The presentation of symptoms may occur in early childhood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Dentinogenesis Imperfecta? (Predisposing Factors)

• A positive family history may be an important risk factor, since Dentinogenesis Imperfecta is an inherited condition
• Currently, no other risk factors have been clearly identified for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Dentinogenesis Imperfecta? (Etiology)

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
• 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

(Source: Dentinogenesis Imperfecta; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Dentinogenesis Imperfecta?

The signs and symptoms of Dentinogenesis Imperfecta may include:

• Presence of teeth that are translucent and discolored (most often blue-grey or yellow-brown in color)
• Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth
• This damage can include teeth fractures or small holes (pitting) in the enamel
• Dentinogenesis Imperfecta can affect both primary (baby) teeth and permanent teeth
• People with this condition may also have speech problems or teeth that are not placed correctly in the mouth

(Source: Dentinogenesis Imperfecta; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

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

(Source: Dentinogenesis Imperfecta; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Dentinogenesis Imperfecta?

The complications of Dentinogenesis Imperfecta may include:

• Severe dental abnormalities
• Severe emotional stress
• Hearing loss

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Dentinogenesis Imperfecta 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.

(Source: Dentinogenesis Imperfecta; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Dentinogenesis Imperfecta be Prevented?

Currently, Dentinogenesis Imperfecta may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Dentinogenesis Imperfecta? (Outcomes/Resolutions) 

• The prognosis of Dentinogenesis Imperfecta is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Dentinogenesis Imperfecta:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/