Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.

Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and multi-systemic complications. Inheritance may be autosomal dominant or recessive, and the phenotypic spectrum, including age of onset, varies widely.