Conditions / Genetic

autosomal dominant hypophosphatemic rickets

info ยท Genetic

A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.

Signs and symptoms

  • Abnormality of the dentition
  • Bone pain
  • Generalized muscle weakness
  • Short stature
  • Elevated circulating alkaline phosphatase concentration
  • Rickets
  • Abnormality of the lower limb
  • Renal phosphate wasting
  • Osteomalacia
  • Hypophosphatemic rickets