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amelogenesis imperfecta
Pathology:
- group of developmental conditions affecting the structure & clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner
- enamel may be hypoplastic, hypomineralised or both, & affected teeth may be discoloured, sensitive or prone to disintegration
- exists in isolation or associated with other abnormalities as part of a syndrome
- enamel crowns are normal in size & shape
Genetics:
- autosomal-dominant hypocalcified amelogenesis imperfecta is associated with defects in FAM83H
Specific
amelogenesis imperfecta hypoplastic type 1
amelogenesis imperfecta hypoplastic type 1B
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1C (amelogenesis imperfecta hypoplastic with or without openbite malocclusion)
amelogenesis imperfecta type 2A1 (amelogenesis imperfecta hypoplastic with or without openbite malocclusion)
amelogenesis imperfecta type 2A3
amelogenesis imperfecta type 4; amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism
General
developmental disorder
genetic disease of the teeth
References
UniProt :accession Q6ZRV2