Conditions / Genetic
osteogenesis imperfecta type 9
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22.
Signs and symptoms
- Wide anterior fontanel
- Finger joint hypermobility
- Disproportionate short-limb short stature
- Recurrent fractures
- Narrow chest
- Pes planus
- Flat occiput
- Bowing of limbs due to multiple fractures
- Blue sclerae
- Delayed gross motor development
Also known as: OI9; osteogenesis imperfecta type IX