Conditions / Genetic
osteogenesis imperfecta type 11
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21.
Signs and symptoms
- Kyphoscoliosis
- Short stature
- Joint hypermobility
- Blue sclerae
- Osteopenia
- Vertebral wedging
- Recurrent fractures
- Increased susceptibility to fractures
- Scoliosis
- Biconcave vertebral bodies
Also known as: OI11; osteogenesis imperfecta type XI