Hypophosphatasia Follow-up

Updated: Dec 11, 2015
  • Author: Horacio B Plotkin, MD, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Complications of the more severe forms of hypophosphatasia usually involve the respiratory system. 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. The infantile form is believed to be fatal in approximately 50% of patients. Longevity studies have not been conducted for the infantile and childhood forms. Individuals with the adult and odontohypophosphatasic forms are believed to have normal lifespans.


Patient Education

Genetic counseling is important for all families who have affected children. A pedigree is essential, especially for the childhood, adult, or odontohypophosphatasic 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.