Osteogenesis imperfecta

Learn about Osteogenesis imperfecta, including causes, symptoms, diagnosis, and treatment options.

Overview
Osteogenesis imperfecta is a genetic disorder characterized by brittle bones and frequent fractures.

Causes and risk factors
Usually due to mutations affecting collagen production.

Symptoms
Fractures with minimal trauma, bone deformities, and sometimes hearing loss or blue sclerae.

Diagnosis
Clinical evaluation, family history, and genetic testing.

Treatment
Fracture prevention, physical therapy, medications to strengthen bone, and orthopedic surgery as needed.

When to seek care
Children with recurrent fractures should be evaluated for underlying bone disorders.