Review Article
Volume: 6 | Issue: 2 | Published: Jan 09, 2024 | Pages: 106 - 118 | DOI: 10.24911/JBCGenetics/183-1696867179
Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review
Authors: Mujahid Khan , Muhammad Umair
Article Info
Authors
Mujahid Khan
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan
Muhammad Umair
Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore 14611, Pakistan.
Publication History
Received: October 09, 2023
Revised: November 23, 2023
Accepted: December 17, 2023
Published: January 09, 2024
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.
Keywords: Keywords: Prevalence, Genetic skeletal disorders, skeletal dysplasia, Pakistani population
Pubmed Style
Mujahid Khan, Muhammad Umair. Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review. JBC Genetics. 2024; 09 (January 2024): 106-118. doi:10.24911/JBCGenetics/183-1696867179
Web Style
Mujahid Khan, Muhammad Umair. Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review. https://www.jbcgenetics.com/index.php/articles/2091 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1696867179
AMA (American Medical Association) Style
Mujahid Khan, Muhammad Umair. Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review. JBC Genetics. 2024; 09 (January 2024): 106-118. doi:10.24911/JBCGenetics/183-1696867179
Vancouver/ICMJE Style
Mujahid Khan, Muhammad Umair. Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review. JBC Genetics. (2024), [cited April 27, 2025]; 09 (January 2024): 106-118. doi:10.24911/JBCGenetics/183-1696867179
Harvard Style
Mujahid Khan, Muhammad Umair (2024) Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review. JBC Genetics, 09 (January 2024): 106-118. doi:10.24911/JBCGenetics/183-1696867179
Chicago Style
Mujahid Khan, Muhammad Umair. "Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review." 09 (2024), 106-118. doi:10.24911/JBCGenetics/183-1696867179
MLA (The Modern Language Association) Style
Mujahid Khan, Muhammad Umair. "Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review." 09.January 2024 (2024), 106-118. Print. doi:10.24911/JBCGenetics/183-1696867179
APA (American Psychological Association) Style
Mujahid Khan, Muhammad Umair (2024) Nosology of Genetic Skeletal Disorders, Pakistan: An Updated review. , 09 (January 2024), 106-118. doi:10.24911/JBCGenetics/183-1696867179