amelogenesis imperfecta type 2A1 (amelogenesis imperfecta hypoplastic with or without openbite malocclusion)

Pathology

• defect of enamel formation
• involves both primary & secondary dentition

Genetics

• autosomal recessive
• associated with defects in KLK4
• associated with defects in MMP20

Clinical manifestations

• the teeth have a shiny agar jelly appearance
• the enamel is softer than normal
• brown pigment is present in middle layers of enamel

More general terms

• amelogenesis imperfecta

Database

• OMIM: https://mirror.omim.org/entry/204700