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Genetic and Rare Diseases Information Center (GARD)

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Amelogenesis imperfecta

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Overview


Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth.[1] This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance.[1] AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.[2]

References

  1. John Timothy Wright, DDS, MS. Developmental Defects of the Teeth. http://www.dentistry.unc.edu/research/defects/pages/ai.htm. Accessed August 1, 2011.
  2. Amelogenesis imperfecta. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta. Accessed August 1, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Amelogenesis imperfecta. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • The National Oral Health Information Clearinghouse, a service of the National Institute of Dental and Craniofacial Research Institue can also provide information on this topic. You can reach them by calling 301-402-7364 or by E-mail nidcrinfo@mail.nih.gov
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Amelogenesis imperfecta. Click on the link to view a sample search on this topic.