Catalog

Hypophosphatasia

No MMS code

Link to WHO Definition

Hypophosphatasia – http://id.who.int/icd/entity/422012968

Hypophosphatasia is a rare inherited disorder characterised by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone manifestations.