Conditions / Genetic
osteogenesis imperfecta type 18
info · Genetic
An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5
An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1.
Signs and symptoms
- Femoral bowing
- Joint hypermobility
- Blue sclerae
- Recurrent fractures
- Wormian bones
- Delayed speech and language development
- Wide nasal bridge
- Biconcave vertebral bodies
- Generalized osteoporosis
- Motor delay
Also known as: OI18; osteogenesis imperfecta, type XVIII