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National Organization for Rare Disorders, Inc.
- Hypoplastic AI (Type I)
- Hypomaturation AI (Type II)
- Hypocalcified AI (Type III)
- Hypomaturation/Hypoplasia/Taurodontism (Type IV)
Amelogenesis imperfecta (AI) refers to a group of rare, inherited disorders characterized by abnormal enamel formation. The term is restricted to those disorders of enamel development not associated with other defects of the body. In AI, the layer of enamel is thin so that the teeth appear to be discolored, showing the color of the materials under the enamel. The teeth usually appear brown or some variant of that color.
Clinical researchers usually classify AI into four main types of which 14 subtypes are recognized. The main types are based on enamel effects and the subtypes are based on clinical appearance and mode of inheritance. The main types are: hypoplastic (Type 1); hypomaturation (Type II); hypocalcified (Type III); and hypomaturation/hypoplasia/taurodontism (Type IV). Amelogenesis imperfecta may be inherited as an X-linked, autosomal dominant, or autosomal recessive genetic trait, depending on the type.
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 4/19/2008
Copyright 1988, 1989, 1997, 1998, 2006 National Organization for Rare Disorders, Inc.