From:  Hypophosphatasia: current concepts in diagnosis and management of a rare metabolic disorder

 Diagnostic criteria for hypophosphatasia in children and adults.

ChildrenAdults
Major

  • Pathogenic or likely pathogenic ALPL gene variant

  • Elevation of natural substrates (B6)

  • Early non-traumatic loss of primary teeth

  • Presence of rickets on radiographs

  • Pathogenic or likely pathogenic ALPL gene variant

  • Elevation of natural substrates (B6)

  • Atypical femoral fractures

  • Recurrent metatarsal fractures

Minor

  • Short stature or linear growth failure over time

  • Delayed motor milestones

  • Craniosynostosis

  • B6-responsive seizures

  • Nephrocalcinosis

  • Poorly healing fractures

  • Chronic musculoskeletal pain

  • Early atraumatic loss of teeth

  • Chondrocalcinosis

  • Nephrocalcinosis

Diagnosis is made by meeting 2 major; or 1 major + 2 minor criteria
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The table is based on the references [5, 50].