Abstract
Genetic skeletal disorders (GSDs) constitute a heterogeneous, rare and a distinctive group of rare bone growth disorders, leading to abnormal size and shape of the skeleton. Prevalence, mutation spectrum and geographic distribution of genetic skeletal disorders (GSDs) in Pakistan are not known. The present study reviewed different GSDs, listed in the "Nosology and Classification of Genetic Skeletal Disorders: (2015 Revision)" using to-date literature published in different data-bases. The most recurrently reported skeletal disorders in Pakistan include acromesomelic dysplasia (AMDM, AMDG, AMDH), Polydactyly, Mucopolysaccharidosis, Split hand/Split foot malformation (SHFM), synpolydacyly, accounting for 55.04% of the total cases. Disorders from nineteen different groups listed in the "Nosology and Classification of Genetic Skeletal Disorders (2015 Revision)" have not been reported from Pakistani population. Most of the publication came from University and research institutes, while very minimal was done by the hospitals. In most of the cases, mutations were identified using next-generation sequencing technologies. In total, mutations in 43 genes causing nineteen different GSDs were reported from Pakistani population in the literature to-date. The current data will help clinicians and researchers working in the field of rare skeletal disorders in Pakistan, helping diagnosis and proper disease management. The review also highlighted the need to create a multi-level national network (database) that could help to provide proper molecular diagnosis and care to the patients suffering from severe GSDs in Pakistan.