Osteogenesis Imperfecta (OI), also known as brittle bone disease, is a genetic disorder affecting the healthy development of the skeletal system. Children with this condition have a genetic defect that affects their ability to make collagen, resulting in collagen deficiency or having collagen that doesn’t function properly. As a result, their bones are not as strong as a typically developing child.
Symptoms can include:
- Bones that break easily
- Bone pains
- Bone deformities (such as scoliosis development or having bowlegs)
- Shorter stature
- A triangular-shaped face
Though there are 15 different types of OI, the most common types are types I-IV, which vary in life expectancy and functional prognosis. While there is no cure, children with OI can benefit from physical and occupational therapy to prevent fractures, manage them when they occur, strengthen muscles to promote overall mobility and functional independence and incorporate standing programs for bone/joint integrity.
For more information, please visit https://kidshealth.org/en/parents/osteogenesis-imperfecta.html