Osteogenesis Imperfecta (OI)

WHAT IS OSTEOGENESIS IMPERFECTA (OI)?

Brittle Bone disease, also known as Osteogenesis Imperfecta (OI), is characterised by fragile bones that break easily.

OI is a genetic condition which causes defects in the formation of collagen in the body. The quality of collagen in the bones leaves them more liable to fracture with little or no trauma. There are 8 different types of OI recorded in medical literature and whilst a person with mild OI may experience only a few fractures those with more severe forms may have hundreds of fractures in their lifetime.

WHAT ARE THE CHARACTERISTICS OF BRITTLE BONE DISEASE/OI?

The characteristics of OI vary greatly from person to person, even among people with the same type of OI, and not all characteristics are evident in each person.

Characteristics frequently seen in children who have OI include:

• Short stature
• Weak tissues, fragile skin, muscle weakness, and loose joints
• Bleeding, easy bruising and frequent nosebleeds
• Hearing loss
• Breathing problems
• Curvature of the spine

Characteristics of OI Types vary, with characteristics of OI Types I – IV including:

Type I
Type I is the mildest and most common form of the disorder and is characterised by relatively few fractures. Typically a child with Type I OI may be average height or slightly shorter-than-average but still within the normal range.

Type II
Type II is the most severe form of OI. Children born with Type II have very short limbs, small chests and soft skulls at birth as well as having undeveloped lungs which commonly leads to respiratory and swallowing problems. Children with OI Type II also have low birth weights. Unfortunately children with OI Type II usually die within weeks of delivery although a few may survive longer. The cause of death is usually respiratory and/or cardiac complications.

Type III
Type III is the most severe type among children who survive the neonatal period. At birth, children generally have mildly shortened and bowed limbs and a small chest. The degree of bone fragility and fracture rate vary widely. Type III is characterised by frequent fractures of the long bones and a markedly short stature. Spine curvatures, compression fractures, Scoliosis and chest deformities occur frequently.

Type IV
Type IV OI is a moderate form of OI. Type IV can range in severity from relatively few fractures, similar to Type I, to a more severe form, similar to Type III.

HOW IS BRITTLE BONE DISEASE/OI TREATED?

Treatment focuses on minimising fractures, maximising mobility and function as well as general health. Treatments include Physiotherapy, Occupational Therapy, braces to support legs, ankles, knees and wrists, orthopaedic surgery, medication to strengthen bones, and mobility aids.  

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