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Osteogenesis imperfecta is a rare, genetically conditioned disease of connective tissue. Clinical symptoms of disease come from abnormal structure or inadequate amount of collagen in bone tissue. The most common causes of osteogenesis imperfecta are mutations in COL1A1 and COL1A2 genes, encoding collagen type I. Nevertheless, we know other mutations in genes encoding proteins, which participate in biosynthesis of collagen and this mutations condition also prevalence of symptoms of osteogenesis imperfecta. Based on clinical symptoms and changes in collagen-containing tissues, as well as on inheritance pattern, in 1979 the disease was divided into 4 major types, which was described by Sillence. Along with the progress of the knowledge on osteogenesis imperfecta and of genetic diagnostic methods, next OI types have been described in the recent years. Clinically they are included into basic forms of OI proposed by Sillence, however they are caused by mutations in other genes so called non-collagen genes. Mutations of these genes are responsible for the occurrence of about 10% of the OI cases. The remaining majority of cases are caused by mutations in collagen genes, COL1A1 and COL1A2. Currently classification of ostegenesis imperfecta comprises 15 types. [ABSTRACT FROM AUTHOR]