Genetic advances in skeletal disorders: an overview
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2023-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=134070 |
| _version_ | 1797816600217255936 |
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| author | Safdar Abbas Hammal Khan Qamre Alam Arif Mahmood Muhammad Umair |
| author_facet | Safdar Abbas Hammal Khan Qamre Alam Arif Mahmood Muhammad Umair |
| author_sort | Safdar Abbas |
| collection | DOAJ |
| description | 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] |
| first_indexed | 2024-03-13T08:41:02Z |
| format | Article |
| id | doaj.art-626f51df7c08436ba55d64ed852c6ca1 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:02Z |
| publishDate | 2023-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-626f51df7c08436ba55d64ed852c6ca12023-05-30T11:51:12ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2023-06-0161576910.24911/JBCGenetics/183-1672021989134070Genetic advances in skeletal disorders: an overviewSafdar Abbas0Hammal Khan1Qamre Alam2Arif Mahmood3Muhammad Umair4Department of Biological Science, Dartmouth College, Hanover, NH, USA Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan, Department of Biosciences, COMSATS University Islamabad Molecular Genomics and Precision Medicine, ExpressMed Laboratories, Zinj, Bahrain Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China Department of Life Sciences, School of Science, University of Management and Technology [UMT], Lahore, Pakistan.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]http://www.ejmanager.com/fulltextpdf.php?mno=134070gsdsosteogenesis imperfectachondrodysplasias; polydactylysyndactylyacromesomelic dysplasiashmfdiagnosis; genetics; management |
| spellingShingle | Safdar Abbas Hammal Khan Qamre Alam Arif Mahmood Muhammad Umair Genetic advances in skeletal disorders: an overview Journal of Biochemical and Clinical Genetics gsds osteogenesis imperfecta chondrodysplasias; polydactyly syndactyly acromesomelic dysplasia shmf diagnosis; genetics; management |
| title | Genetic advances in skeletal disorders: an overview |
| title_full | Genetic advances in skeletal disorders: an overview |
| title_fullStr | Genetic advances in skeletal disorders: an overview |
| title_full_unstemmed | Genetic advances in skeletal disorders: an overview |
| title_short | Genetic advances in skeletal disorders: an overview |
| title_sort | genetic advances in skeletal disorders an overview |
| topic | gsds osteogenesis imperfecta chondrodysplasias; polydactyly syndactyly acromesomelic dysplasia shmf diagnosis; genetics; management |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=134070 |
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