Spotting OI Symptoms Early to Help Your Child

Osteogenesis imperfecta (OI) is a genetic disorder causing bones to be fragile and break easily due to collagen defects.

It's often referred to as "brittle bone disease."

OI is usually inherited in an autosomal dominant pattern, caused by mutations in COL1A1 or COL1A2 genes.

Symptoms include frequent fractures, short stature, blue or gray discoloration of the sclera, and dental problems.

There are several types of OI, ranging from mild to severe, with varying symptoms and prognoses.

Diagnosis is often made through genetic testing, X-rays, and physical examination.

Treatment involves managing fractures, improving bone density with medications like bisphosphonates, and physical therapy.

Advances in treatment include gene therapy, growth hormone therapy, and improved surgical techniques.

Multidisciplinary care teams are essential for managing the complex needs of individuals with OI.

10. Research is ongoing to develop new treatments and improve quality of life for those with OI.

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