Osteogenesis Imperfecta (OI)

The oldest evidence of OI is in a 3000 year-old ancient Egyptian mummy, although written descriptions of people with fragile bones and hearing problems have been published since the 1600s in Europe.

Willem Vrolik, Professor of anatomy, physiology and natural sciences at the University of Amsterdam, first used the term osteogenesis imperfecta in 1849. Over the years, numerous doctors have characterised a range of different, but closely related, diseases which all share a common feature: bone fragility.

Australian geneticist Professor David Sillence developed a way of splitting OI into different ‘types’, based on clinical features and genetic mutations. Originally described as types I – IV, OI is now divided into many more sub-types. 19 different genes have been implicated in different types of OI, most of which are involved in the secretion or maintenance of collagen, a major component of connective tissue.

Type I is the commonest sub-type and generally causes a dominantly-inherited syndrome of bones fractures, a blue tinge to the whites of the eyes and premature hearing loss. Other types differ by severity, age of onset, associated features or the manner in which they are inherited. Diagnosis of OI requires careful clinic and radiological assessment in addition to DNA analysis.