Diseases & Conditions
Amelogenesis Imperfecta
Synonyms of Amelogenesis Imperfecta
General Discussion
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.
Organizations related to Amelogenesis Imperfecta
For a Complete Report
Disorder Subdivisions
- Hypocalcified AI (Type III)
- Hypomaturation AI (Type II)
- Hypomaturation/Hypoplasia/Taurodontism (Type IV)
- Hypoplastic AI (Type I)
General Discussion
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.
Organizations related to Amelogenesis Imperfecta
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/ - NIH/National Oral Health Information Clearinghouse
1 NOHIC Way
Bethesda MD 20892-3500
Phone #: 301-402-7364
800 #: --
e-mail: nohic@nidcr.nih.gov
Home page: http://www.nohic.nidcr.nih.gov
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). 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
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