Conditions / Genetic
osteogenesis imperfecta type 7
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22.
Signs and symptoms
- Rhizomelia
- Bowing of the legs
- Coxa vara
- Recurrent fractures
- Vertebral compression fracture
- Blue sclerae
- Multiple prenatal fractures
- Scoliosis
- Micromelia
- Long philtrum
Also known as: OI7; osteogenesis imperfecta type VII