This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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
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.
For more information, visit GARD.