Childhood hypophosphatasia

Childhood hypophosphatasia is a rare, inherited metabolic bone disorder defined by clinical onset between six months of age and adolescence, caused by loss-of-function variants in the ALPL gene Affected pediatric patients characteristically present with rickets-like skeletal deformities, short stature, delayed walking with a waddling gait, bone pain, and recurrent or poorly healing fractures A hallmark clinical feature is the premature loss of primary teeth with fully intact roots due to defecti...

Childhood hypophosphatasia is a rare, inherited metabolic bone disorder defined by clinical onset between six months of age and adolescence, caused by loss-of-function variants in the ALPL gene

This genetic defect leads to deficient activity of tissue-nonspecific alkaline phosphatase and the extracellular accumulation of inorganic pyrophosphate, an inhibitor of bone and dental mineralization

This genetic defect leads to deficient activity of tissue-nonspecific alkaline phosphatase and the extracellular accumulation of inorganic pyrophosphate, an inhibitor of bone and dental mineralization A hallmark clinical feature is the premature loss of primary teeth with fully intact roots due to defective cementum formation, often accompanied by craniosynostosis and chronic musculoskeletal weakness

Affected pediatric patients characteristically present with rickets-like skeletal deformities, short stature, delayed walking with a waddling gait, bone pain, and recurrent or poorly healing fractures A hallmark clinical feature is the premature loss of primary teeth with fully intact roots due to defective cementum formation, often accompanied by craniosynostosis and chronic musculoskeletal weakness