Amelogenesis imperfecta nephrocalcinosis

Synonyms

Generalized enamel hypoplasia and renal dysfunction, ERS, Absent enamel, nephrocalcinosis and apparently normal calcium metabolism, Amelogenesis imperfecta-nephrocalcinosis syndrome, Enamel renal syndrome, Amelogenesis imperfecta- hypoplastic type- IG,

Overview

Amelogenesis Imperfecta Nephrocalcinosis  is a rare disorder characterized by the abnormal formation of enamel on the teeth.

Symptoms

  • Abnormality of calcium-phosphate metabolism
  • Abnormality of dental color
  • Abnormality of dental enamel
  • Delayed eruption of teeth
  • Nephropathy
  • Amelogenesis imperfecta
  • Nocturnal enuresis
  • Punctate nephrocalcinosis
  • Excessive nighttime urination
  • Progressive punctate nephrocalcinosis
  • Absent enamel
  • Increased serum osteocalcin
  • Reduced urinary delta-carboxyglutamic acid
  • Rough tooth surface
  • Light yellow-brown teeth
  • Unerupted teeth
  • Kidney disease

Resources

  • NIH