Conditions / Genetic
osteogenesis imperfecta type 21
info · Genetic
An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1.
Signs and symptoms
- Joint hypermobility
- Osteoporosis
- Disproportionate short-limb short stature
- Bowing of the legs
- Scoliosis
- Motor delay
- Recurrent fractures
- Bowing of the arm
- Wormian bones
- Barrel-shaped chest
Also known as: OI21; osteogenesis imperfecta type XXI