Abstract
Classified as a rare disease (RD) (1:20,000), X-Linked Hypophosphatemia (XLH) corresponds to the most prevalent form of hereditary rickets in humans, representing approximately 80% of familial rickets cases. XLH patients present severe defects in phosphate reabsorption and vitamin D metabolism, growth retardation, osteomalacia, bone abnormalities, severe bone pain, spontaneous dental absc…