{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T14:39:04Z","timestamp":1792507144737,"version":"4.5.0"},"reference-count":46,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,10,18]],"date-time":"2013-10-18T00:00:00Z","timestamp":1382054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>Polydactyly is one of the most common hereditary limb malformations featuring additional digits in hands and\/or feet. It constituted the highest proportion among the congenital limb defects in various epidemiological surveys. Polydactyly, primarily presenting as an additional pre\u2010axial or post\u2010axial digit of autopod, is a highly heterogeneous condition and depicts broad inter\u2010 and intra\u2010familial clinical variability. There is a plethora of polydactyly classification methods reported in the medical literature which approach the heterogeneity in polydactyly in various ways. In this communication, well\u2010characterized, non\u2010syndromic polydactylies in humans are reviewed. The cardinal features, phenotypic variability and molecular advances of each type have been presented. Polydactyly at cellular and developmental levels is mainly a failure in the control of digit number. Interestingly, <jats:italic><jats:styled-content style=\"fixed-case\">GLI3<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">SHH<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">ZRS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">SHH<\/jats:styled-content><\/jats:italic> enhancer), two antagonistic factors known to modulate digit number and identity during development, have also been implicated in polydactyly. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">GLI3<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ZRS<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">SHH<\/jats:styled-content><\/jats:italic> cause overlapping polydactyly phenotypes highlighting shared molecular cascades in the etiology of additional digits, and thus suggesting the lumping of at least six distinct polydactyly entities. However, owing to the extreme phenotypic and clinical heterogeneity witnessed in polydactyly a substantial genetic heterogeneity is expected across different populations and ethnic groups.<\/jats:p>","DOI":"10.1111\/cge.12276","type":"journal-article","created":{"date-parts":[[2013,9,11]],"date-time":"2013-09-11T08:16:29Z","timestamp":1378887389000},"page":"203-212","source":"Crossref","is-referenced-by-count":142,"title":["Polydactyly: phenotypes, genetics and classification"],"prefix":"10.1111","volume":"85","author":[{"given":"S.","family":"Malik","sequence":"first","affiliation":[{"name":"Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,18]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"334","article-title":"Spicilegium anatomicum continens observationum anatomicarum rariorum centuriam unam necnon osteogeniam foeruum etc. Amsterdam. 1670. 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