Autosomal dominant hypophosphatemic rickets

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare genetic disorder, characterized by low serum phosphorus concentrations, rickets, osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and liver. FGF23 helps maintain phosphorus homeostasis by inducing renal phosphate excretion.