Conditions / Genetic

osteogenesis imperfecta type 5

info · Genetic · ICD-10: Q78.0

An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15.

Signs and symptoms

  • Limited pronation/supination of forearm
  • Osteopenia
  • Recurrent fractures
  • Anterior radial head dislocation
  • Wormian bones
  • Triangular face
  • Biconcave vertebral bodies
  • Hyperplastic callus formation
  • Short stature
  • Abnormal pelvic girdle bone morphology

Also known as: OI5; osteogenesis imperfecta type V