Amelogenesis Imperfecta, Type 1H K00.5

Very rare tooth development disorder characterized by hypoplastic and hypomineralized enamel that may be rough, pitted, and/or discolored (Wang et al. 2014 and Poulter et al. 2014).

Amelogenesis imperfecta type IH (AI1H) is caused by a homozygous or compound heterozygous mutation in the integrin beta-6 gene(ITGB6 gene; 147558) on chromosome 2q24.

Wang et al (2014) reported on two Hispanic families with segregated amelogenesis imperfecta. In family 1, a 7-year-old girl had enamel malformations without other symptoms. There was significant wear in the erupted teeth, requiring crowns on the molars to maintain vertical dimension. On radiographs, the unerupted teeth showed a thin enamel layer that stood out well from the dentin.