Kyriazis Z, Kollia P, Grivea I, Stefanou N, Sotiriou S, Dailiana ZH. Polydactyly: Clinical and molecular manifestations. World J Orthop 2023; 14(1): 13-22 [PMID: 36686282 DOI: 10.5312/wjo.v14.i1.13]
Corresponding Author of This Article
Zoe H Dailiana, MD, PhD, Professor, Surgeon, Department of Orthopaedic Surgery, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, Larissa 41500, Greece. dailiana@med.uth.gr
Research Domain of This Article
Orthopedics
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Zisis Kyriazis, Nikolaos Stefanou, Zoe H Dailiana, Department of Orthopaedic Surgery, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa 41500, Greece
Panagoula Kollia, Department of Genetics and Biotechnology, Faculty of Biology, University of Athens, Athens 15701, Greece
Ioanna Grivea, Department of Paediatrics, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa 41500, Greece
Sotirios Sotiriou, Laboratory of Histology and Embryology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa 41500, Greece
Author contributions: Kyriazis Z wrote the paper and participated in the collection of the data; Dailiana ZH, Kollia P, and Grivea I participated in the conception of the study, and interpretation and collection of the literature data; Stefanou N and Sotiriou S participated in the collection of the literature data; all authors have read and approved the final manuscript.
Conflict-of-interest statement: The authors have no conflict of interest to disclose.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Zoe H Dailiana, MD, PhD, Professor, Surgeon, Department of Orthopaedic Surgery, Faculty of Medicine, School of Health Sciences, University of Thessaly, Biopolis, Larissa 41500, Greece. dailiana@med.uth.gr
Received: September 26, 2022 Peer-review started: September 26, 2022 First decision: October 21, 2022 Revised: November 4, 2022 Accepted: December 7, 2022 Article in press: December 7, 2022 Published online: January 18, 2023 Processing time: 108 Days and 11.2 Hours
Abstract
Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders. It can be divided into two major groups: Non-syndromic polydactyly or syndromic polydactyly. According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation. There are several forms of polydactyly, including hand and foot extra digit manifestations. The deformity affects upper limbs with a higher frequency than the lower, and the left foot is more often involved than the right. The treatment is always surgical. Since the clinical presentation is highly diverse, the treatment combines single or multiple surgical operations, depending on the type of polydactyly. The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders. Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most non-syndromic and syndromic disorders.
Core Tip: The molecular basis of hand and foot polydactyly, syndromic or non- syndromic, is diverse. There are several phenotypes of the disorder which are correlated to a specific molecular profile and other whose molecular basis is still unclear. We summarize and provide an overview of gene mutations that cause hand and foot polydactyly as an isolated disorder or as part of a syndrome and present the clinical manifestations that they cause.
