Prevalence It has been estimated that the severe forms of hypophosphatasia occur in approximately one per100,000 live births. The more mild childhood and adult forms are probably somewhat more common. About one out of every 300 individuals in the United States is thought to be a carrier for hypophosphatasia. Depending on the severity of the skeletal disease, there maybe deformity of the arms, legs and chest. Frequent bouts of pneumonia can result if the chest distortion is severe.
Recurrent fractures can also occur.
Teeth may be lost prematurely and the teeth may have wide pulp chambers that predisposes them to cavities. These symptoms resemble some of those found in osteogenesis imperfecta. The outcome following a diagnosis of hypophosphatasia is variable. Cases detected in the womb or with severe deformities at birth almost invariably result in death within days or weeks. When the diagnosis is made before six months of age, some infants have a downhill course while others survive and even do well.