Conditions / Genetic
osteogenesis imperfecta type 17
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33.
Signs and symptoms
- Osteoporosis
- Recurrent fractures
- Vertebral compression fracture
- Kyphoscoliosis
- Joint hypermobility
- Reduced bone mineral density
- Short stature
- Syringomyelia
- Decreased muscle mass
- Hypotonia
Also known as: OI17; osteogenesis imperfecta type XVII