Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review

Abstract

Genetic skeletal disorders (GSDs) are heritably and clinically varied class of bone and cartilage anomalies, characterized by irregular growth/development of the skeleton. They are rare, but their cases may be upraised with endogamy as it increases homozygosity. Pakistan has highest rate (55-60%) of consanguinity, which is highly detrimental to health. Still, Pakistan has no reliable data (geographical prevalence, clinical and epidemiological data) associated with GSDs and other rare genetic disorders. Unfortunately, due to the lack of adequate clinical/diagnostic resources and genetic knowledge, the suspected cases of genetic disorders are misdiagnosed and hence mistreated, thus, casing psycho-socio-economic problems. The present study reviewed current literature, published in several internet data-bases included the Nosology of Genetic Skeletal Disorders: (2023 Revision)" from Pakistan. GSDs such as Acromesomelic dysplasia, Mucopolysaccharidosis, Polydactyly, Synpolydactyly and Split hand/Split foot malformation were reported in several families and have a 55.04% of all the reported GSDs from Pakistan. Till-date, in the literature 72 different mutated genes has been reported from Pakistani community. This review will help clinicians and researchers in understanding, diagnosis and management of GSDs and will offer a descriptive of approach to carry out fruitful molecular genetic research in genetically vulnerable and low resource regions. Moreover, it will also speed up the possible therapy development and may insist the stakeholders to establish a multi-level network to find a path towards the healthcare challenges of GSDs from Pakistan.