Hypophosphatasia refers to a rare metabolic disorder characterised by deficient serum alkaline phosphatase activity. The effects of hypophosphatasia are primarily seen in the skeletal system. The condition has marked variation in clinical expression (see subtypes).

This is best discussed according specific subtypes.


Hypophosphatasia can be divided into several groups (at least six types 6,8) primarily according to age at presentation 3,6

Skeletal manifestations

Some of the skeletal features are common across subtypes and include 4:

Complications are primarily those of hypercalcaemia.

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Article Information

rID: 13871
Tag: cases
Synonyms or Alternate Spellings:
  • Congenital hypophosphatasia
  • Hypophosphatasia: general

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