In 5 patients, Scriver et al. (1977) identified a 'new' disorder characterized clinically by hypophosphatemia, modest shortening of stature, bowing of the lower limbs, and nonrachitic bone changes somewhat resembling metaphyseal chondrodysplasia. Although a defect in renal transport ... In 5 patients, Scriver et al. (1977) identified a 'new' disorder characterized clinically by hypophosphatemia, modest shortening of stature, bowing of the lower limbs, and nonrachitic bone changes somewhat resembling metaphyseal chondrodysplasia. Although a defect in renal transport of phosphate was demonstrated, the defect appeared to be different from that of X-linked hypophosphatemia (XLH; 307800); for the same low level of serum phosphate, the bone disease was milder in HBD than in the X-linked disorder. In 2 of the 5 cases reported by Scriver et al. (1977), autosomal dominant inheritance was found: father-son and father-daughter pairs with hypophosphatemia, although the father in each case had no bone disease. The 2 presumably dominant cases showed phosphatemic response to 1-alpha-OH analogs of vitamin D3, but 1 of the other patients without a positive family history did not respond. Radiologic signs of rickets or osteomalacia were inconsistent (Scriver et al., 1981). Scriver (1994) indicated that there was no new information concerning HBD.
Although it has been suggested that HBD may be a 'forme fruste' of autosomal dominant hypophosphatemic rickets (ADHR; 193100) (Econs and McEnery, 1997), the ADHR Consortium (2000) excluded a mutation in the FGF23 gene (605380), which causes ADHR, ... Although it has been suggested that HBD may be a 'forme fruste' of autosomal dominant hypophosphatemic rickets (ADHR; 193100) (Econs and McEnery, 1997), the ADHR Consortium (2000) excluded a mutation in the FGF23 gene (605380), which causes ADHR, in affected members of the family reported by Scriver et al. (1977).