Table 1. Clinical manifestations of hypophosphatasia.

Clinical manifestations
Skeletal: rickets-like bone changes, bone demineralization, bone deformity, fragility fractures, pseudofractures, delayed bone healing, low stature, craniosynostosis
Muscular: reduced muscular strength, altered gait, and myalgia
Neurological: seizure, complications associated with craniosynostosis, and intracranial hypertension
Respiratory: chest deformity, pulmonary hypoplasia, frequent respiratory infections, tracheomalacia
Renal: nephrolithiasis, nephrocalcinosis, hyperphosphatemia, hypercalciuria
Articular: chondrocalcinosis, periarticular calcification, pseudogout
Dental: early tooth loss
Other manifestations: failure to thrive

Adapted from: Conti F. Hypophosphatasia: clinical manifestation and burden of disease in adult patients. Clin Cases Miner Bone Metab. 2017;14(2):230-4.