Hypophosphatasia is a rare inherited disorder characterized by defective bone and tooth
mineralization, and deficiency of serum and bone alkaline phosphatase activity. The
frequency of the disease has been estimated to be one in 100 000 for severe forms, but mild
forms of hypophosphatasia may be more common. The symptoms are highly variable in their
clinical expression, which ranges from stillbirth without mineralized bone to early tooth loss
without bone symptoms. The transmission of severe forms is autosomal recessive, while …