In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder.
Click on each gene name to learn more about the role it plays in the development of tooth enamel.
Amelogenesis imperfecta can have different patterns of inheritance, depending on the
Amelogenesis imperfecta may also be inherited in an
About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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Does amelogenesis imperfecta have to do with the lack of quantity or quality of tooth enamel? See answer
Although we have not been diagnosed, my children and I have symptoms of amelogenesis imperfecta. Please tell me more about this condition, how it can be diagnosed, and if there is any cure or treatment available. In addition, is there any financial assistance to help pay for repair? See answer
My family and I have a genetic tooth disorder, and I am convinced it is amelogenesis imperfecta (AI). Is it possible to prevent my children from inheriting this condition? Are there any treatments for those already affected? See answer
What is the treatment protocol for amelogenesis imperfecta? Is fluoride supplementation useful for "hardening" the enamel of the teeth of individuals affected by this condition? See answer
My son has amelogenesis imperfecta. Our insurance company has requested proof that this is a medical condition. Can you provide me with information on this topic? See answer