Conditions / Genetic
osteogenesis imperfecta type 13
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21.
Signs and symptoms
- Decreased body weight
- Femoral bowing
- Short stature
- Osteoporosis
- Arachnodactyly
- Joint hypermobility
- Platyspondyly
- Umbilical hernia
- Wormian bones
- Reduced bone mineral density
Also known as: OI13; osteogenesis imperfecta type XIII