Pediatric Osteogenesis Imperfecta

Osteogenesis imperfecta (OI), or brittle bone disease, is a rare, genetic condition that causes fragile bones.

What is Pediatric Osteogenesis Imperfecta?

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?

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