An inborn error of metabolism characterized by deficient alkaline phosphatase in serum and bone, resulting in the defective formation of bone and cementum.
Hypophosphatasia is an uncommon disorder of bone and cartilage formation. Its salient features include poor mineralization of the skull, short ribs resulting in an underdeveloped thorax and respiratory insufficiency, and poorly formed, fragile bones. A severe deficiency of the enzyme alkaline phosphatase is present in tissue and bone.
A rare inherited disorder of bony mineralization with a deficiency of alkaline phosphatase.. There are four forms of this condition: lethal perinatal, infantile, childhood, and adult. The perinatal and infantile forms are inherited as autosomal recessive traits. The inheritance pattern of the childhood and adult forms is unknown. In the adult form, signs and symptoms may not become apparent until middle age, but there may be a history of early loss of either deciduous or permanent teeth and short stature.