Conditions / Genetic

osteogenesis imperfecta type 14

info · Genetic · ICD-10: Q78.0

An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31.

Signs and symptoms

  • Femoral bowing
  • Slender long bone
  • Elevated circulating beta-CTX concentration
  • Osteoporosis
  • Osteopenia
  • Thin bony cortex
  • Recurrent fractures
  • Increased susceptibility to fractures
  • Blue sclerae
  • Elevated circulating alkaline phosphatase concentration

Also known as: OI14; osteogenesis imperfecta type XIV