Review Article
Volume: 6 | Issue: 1 | Published: Feb 24, 2023 | Pages: 57 - 69 | DOI: 10.24911/JBCGenetics/183-1672021989
Genetic advances in skeletal disorders: an overview
Authors: Safdar Abbas , Hammal Khan , Qamre Alam , Arif Mahmood , Muhammad Umair
Article Info
Authors
Safdar Abbas
Department of Biological Science, Dartmouth College, Hanover, NH, USA
Hammal Khan
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan, Department of Biosciences, COMSATS University Islamabad
Qamre Alam
Molecular Genomics and Precision Medicine, ExpressMed Laboratories, Zinj, Bahrain
Arif Mahmood
Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China
Muhammad Umair
Department of Life Sciences, School of Science, University of Management and Technology [UMT], Lahore, Pakistan.
Publication History
Received: December 26, 2022
Revised: January 23, 2023
Accepted: January 29, 2023
Published: February 24, 2023
Abstract
Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous disorders characterized by abnormal development, remodeling, and growth of the human skeleton's cartilage and bones. GSDs have a high spectrum of phenotypes that range from disproportionate short stature (dwarfism) in childhood to osteoarthritis in old age. According to the latest nosology classification of skeletal dysplasias, 461 disorders under 42 groups are classified according to specific radiographic, clinical, and molecular standards. In addition, correct molecular diagnosis for these rare GSDs is important for genetic and psychological counseling and treatment. GSDs are also associated with many syndromic forms that affect other parts such as hearing, vision, neurological, pulmonary, renal, or cardiac function. This review highlights the importance of GSDs and details a few selected disorders and their management strategies.
Keywords: GSDs, osteogenesis imperfecta, chondrodysplasias, polydactyly, syndactyly, acromesomelic dysplasia, SHMF, diagnosis, genetics, management
