Conditions / Genetic

Paget disease of bone 2

info · Genetic

A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21.

Signs and symptoms

  • Femoral bowing
  • Elevated circulating alkaline phosphatase concentration
  • Osteosclerosis of the ulna
  • Short femur
  • Hypercalcemia
  • Sandwich appearance of vertebral bodies
  • Increased susceptibility to fractures
  • Headache
  • Bilateral conductive hearing impairment
  • Sclerosis of skull base

Also known as: Paget's disease of bone-2