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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]
Last updated: 12/12/2013

References

  1. John Timothy Wright, DDS, MS. Developmental Defects of the Teeth. http://www.dentistry.unc.edu/research/defects/pages/ai.htm. Accessed 12/12/2013.
  2. Amelogenesis imperfecta. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta. Accessed 12/12/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Amelogenesis imperfecta. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.