Pediatric Osteogenesis Imperfecta (OI)

What is Pediatric Osteogenesis Imperfecta (OI)?

Osteogenesis imperfecta (OI), is commonly known as brittle bone disease. It is a rare, genetic (passed down from parent to child) condition, meaning a child is born with osteogenesis imperfecta and has it for their entire life.

Children with osteogenesis imperfecta have extremely fragile bones, which may break easily and frequently. The genetic defect that causes the disease affects the non-mineral part of the bone. The result is less bone mass, which causes the bones to be more at risk for fracture. Other side-effects of osteogenesis imperfecta include problems with muscle mass, hearing loss, dental problems and skin issues.

What are the signs and symptoms of Pediatric Osteogenesis Imperfecta (OI)?

Symptoms of osteogenesis imperfecta include:

• Asthma or other respiratory problems
• Bone pain
• Curves in the spine
• Dental problems
• Frequent bruises on the skin
• Hearing loss
• Lack of height (short)
• Large head circumference at birth
• Low bone density
• Loose joints
• Muscle weakness
• Myopia or other vision problems
• Late closing fontanels (space between bones of skull) during growth from birth to 2 months of age