Genetic advances in skeletal disorders: an overview

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. [JBCGenetics 2023; 6(1.000): 57-69]

Keywords

• gsds
• osteogenesis imperfecta
• chondrodysplasias; polydactyly
• syndactyly
• acromesomelic dysplasia
• shmf
• diagnosis; genetics; management