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
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.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Obliteration of the pulp chamber||0006350|
|30%-79% of people have these symptoms|
|Generalized hypoplasia of dental enamel||0006282|
Gray colored tooth enamel
Greyish enamel[ more ]
|Hypocalcification of dental enamel||
Decreased enamel calcification
Poorly calcified tooth enamel[ more ]
|Yellow-brown discoloration of the teeth||
Yellow-brown discolored teeth
|5%-29% of people have these symptoms|
Easy bruising[ more ]
|Finger joint hypermobility||
Increased mobility in finger joint
|Hyperextensibility at elbow||0010485|
|Knee joint hypermobility||
Knee joint over-flexibility
|Persistence of primary teeth||
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth[ more ]
|Selective tooth agenesis||0001592|
|Short dental roots||
Decreased length of dental roots
Decreased length of tooth roots
Short tooth roots
Underdeveloped dental roots[ more ]
|1%-4% of people have these symptoms|
Whites of eyes are a bluish-gray color
Hearing defect[ more ]
|Prolonged bleeding time||0003010|
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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