The condition, or types of it, have had various other names over the years and in different nations. Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease.

The name "Osteogenesis Imperfecta" dates to at least 1895 and has been the usual medical term in the twentieth century to present.

The current four type system began with Sillence in 1979. An older system deemed less severe types "Osteogenesis Imperfecta Tarda" while more severe forms were deemed "Osteogenesis Imperfecta Congenita." As this did not differentiate well, and all forms are congenital, this has since fallen out of favour.

The condition has been found in an Ancient Egyptian mummy from 1000 BC. The Norse king Ivar the Boneless may have had this condition as well.

The earliest studies of it began in 1788 with the Swede Olof Jakob Ekman. He described the condition in his doctoral thesis and mentioned cases of it going back to 1678. In 1831, Edmund Axmann described it in himself and two brothers. Johann Friedrich Georg Christian Martin Lobstein dealt with it in adults in 1833. Willem Vrolik did work on the condition in the 1850s.

The idea that the adult and newborn forms were the same came in 1897 with Martin Benno Schmidt.

Alternative & Related Names :
Osteogenesis Imperfecta, OI, Fragile Bone Disease, Brittle Bones, Brittle Bone Disease, Broken Bones, Osteoporosis, Bone Fragility, Syndromes Resembling Osteogenesis Imperfecta.