Skeletal deformities can predispose an infant to respiratory compromise or pneumonia. In the infantile form, craniosynostosis can lead to increased intracranial pressure. The perinatal form is considered lethal. Longevity studies have not been conducted for the infantile and childhood forms. Individuals with the adult and odontohypophosphatasia forms are believed to have normal lifespans.
Genetic counseling is important for all families who have affected children.
A pedigree is essential, especially for the childhood, adult, or odontohypophosphatasia forms, which can have either autosomal dominant or recessive forms. Options for future pregnancies, such as prenatal testing for the perinatal form, should be discussed with parents as well. Prenatal diagnosis is available only for the perinatal form. By the second trimester, many of the skeletal abnormalities can be noted on ultrasound. Currently, protocol involves the use of CVS followed by serial ultrasounds.