Conditions / Genetic

amelogenesis imperfecta type 1C

info · Genetic · ICD-10: K00.5

An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM).

Signs and symptoms

  • Amelogenesis imperfecta
  • Enamel hypomineralization
  • Anterior open-bite malocclusion
  • Yellow-brown discoloration of the teeth
  • Taurodontia

Also known as: AI1C; amelogenesis imperfecta type IC; autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion; autosomal recessive amelogenesis imperfecta local hypoplastic type