Conditions / Musculoskeletal

osteogenesis imperfecta type 16

info · Musculoskeletal · ICD-10: Q78.0

An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11.

Signs and symptoms

  • Rhizomelia
  • Short stature
  • Decreased calvarial ossification
  • Prolonged bleeding time
  • Bruising susceptibility
  • Recurrent fractures
  • Narrow chest
  • Vertebral compression fracture
  • Short long bone
  • Angulated humerus

Also known as: OI16; chromosome 11p11.2 deletion syndrome 91.3-KB; osteogenesis imperfecta type XVI