amelogenesis imperfecta type 1C (amelogenesis imperfecta hypoplastic with or without openbite malocclusion)

Pathology

• defect of enamel formation

Genetics

• autosomal recessive
• associated with defects in ENAM

Clinical manifestations

• teeth show hypoplastic & unmineralized enamel, & a yellow-brown discoloration
• enamel defects can be associated with facial & oral features including vertical dysgnathia & anterior openbite malocclusion

More general terms

• amelogenesis imperfecta

Database

• OMIM: https://mirror.omim.org/entry/104500