Conditions / Genetic
osteogenesis imperfecta type 12
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13.
Signs and symptoms
- Delayed eruption of teeth
- Short stature
- Narrow mouth
- Generalized osteoporosis
- Motor delay
- Osteoporosis
- Prominent forehead
- Bowing of the legs
- Recurrent fractures
- High palate
Also known as: OI12; osteogenesis imperfecta type XII