Hypophosphatasia

Hypophosphatasia (HPP) is a rare, inherited, and sometimes fatal bone disease characterized by low serum alkaline phosphatase activity and skeletal dysplasia characterized by skeletal hypomineralization. Symptoms include failure to thrive, respiratory insufficiency, rickets, myopathy and seizures in infants; rickets, myopathy, poor growth, non-traumatic fractures and early loss of primary teeth in children; and osteomalacia or "soft bones", frequent non-traumatic fractures, bone pain and early permanent tooth loss in adults.