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Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in “Nosology and Classification of genetic skeletal disorders (2010 version)” using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were  Marfan syndrome ,  osteogenesis imperfecta ,  fibrous dysplasia ,  mucopolysaccharidosis ,  multiple cartilaginous exostoses ,  neurofibromatosis type 1 (NF1) ,  osteopetrosis ,  achondroplasia, enchondromatosis (Ollier) , and  osteopoikilosis , accounting for 76.5% (12,312 cases) of the total cases. Five groups (group 8, 12, 14, 18, 21) defined by “Nosology and Classification of genetic skeletal disorders” have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%). In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.

A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012