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