Dentinogenesis Imperfecta 1

Dentinogenesis imperfecta - Shield's type II

Overview

Type of disease: Rare conditions

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. 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 is caused by mutations in the DSPP gene. This condition is inherited in an autosomal dominant fashion.

Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few families with type II have progressive hearing loss in addition to dental abnormalities. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually forms of a single disorder.

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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