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Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives
A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutat...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141913/ https://www.ncbi.nlm.nih.gov/pubmed/35627156 http://dx.doi.org/10.3390/genes13050771 |
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author | Zaib, Tahir Rashid, Hibba Khan, Hanif Zhou, Xiaoling Sun, Pingnan |
author_facet | Zaib, Tahir Rashid, Hibba Khan, Hanif Zhou, Xiaoling Sun, Pingnan |
author_sort | Zaib, Tahir |
collection | PubMed |
description | A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype–phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in HOXD13 cause various types of SD, and how a mutation in HOXD13 could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications. |
format | Online Article Text |
id | pubmed-9141913 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-91419132022-05-28 Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives Zaib, Tahir Rashid, Hibba Khan, Hanif Zhou, Xiaoling Sun, Pingnan Genes (Basel) Review A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype–phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in HOXD13 cause various types of SD, and how a mutation in HOXD13 could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications. MDPI 2022-04-27 /pmc/articles/PMC9141913/ /pubmed/35627156 http://dx.doi.org/10.3390/genes13050771 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Zaib, Tahir Rashid, Hibba Khan, Hanif Zhou, Xiaoling Sun, Pingnan Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives |
title | Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives |
title_full | Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives |
title_fullStr | Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives |
title_full_unstemmed | Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives |
title_short | Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives |
title_sort | recent advances in syndactyly: basis, current status and future perspectives |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141913/ https://www.ncbi.nlm.nih.gov/pubmed/35627156 http://dx.doi.org/10.3390/genes13050771 |
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