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Cited by 122Congenital limb and hand anomaliesdental development and anomaliesDevelopmental Biology and Gene Regulation

Clinical Genetics of Polydactyly: An Updated Review

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Umair, Muhammad, Ahmad, Farooq, Bilal, Muhammad, Ahmad, Wasim, Alfadhel, Majid·2018·Frontiers in Genetics
DOI 10.3389/fgene.2018.00447PMC PMC6232527
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Abstract

Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). Broadly, the non-syndromic polydactyly has been classified into three types i.e; preaxial polydactyly (radial), central polydactyly (axial) and postaxial polydactyly (ulnar). Mostly inherited as an autosomal dominant entity with variable penetrance and caused by defects that occur in the anterior-posterior patterning of limb development. In human, to-date at least ten loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141, GLI3, MIPOL1, IQCE, PITX1, and the GLI1. In the present review, clinical, genetic and molecular characterization of the polydactyly types has been presented including the recent genes and loci identified for non-syndromic polydactyly. This review provides an overview of the complex genetic mechanism underlie polydactyly and might help in genetic counseling and quick molecular diagnosis.

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  • Variation in the lengths and number of fingers on human hands results from genetic variation.

    “The variation in the lengths and number of fingers on human hands that results from genetic variation, and there is such variation [14,15], has helped to identify the genes that are involved in constructing human hands in development through the stages from embryo to fetus to neonate.”

    From Genes, Heritability, ‘Race’, and Intelligence: Misapprehensions and Implications (2022) · cites this paper as [14]

    The Abstract (page unavailable) identifies extra fingers or toes as a hereditary anomaly and names genes associated with polydactyly, supporting genetic variation in finger number. The paper does not establish that variation in the lengths of human fingers results from genetic variation; a search for finger and digit length did not find that point. (LLM, conf=0.88)

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Cited by

Sorted by citations

Authors
Umair, M., Ahmad, F., Bilal, M., Ahmad, W., & Alfadhel, M.
Affiliations
  • Quaid-i-Azam University (PK)
  • King Saud bin Abdulaziz University for Health Sciences (SA)
Corresponding author
Umair, Muhammad
ORCID
Venue
Frontiers in Genetics
Publisher
Frontiers Media SA
Published
2018-11-06
Volume
9
Pages
447-447
ISSN
1664-8021 (ISSN-L)
DOI
10.3389/fgene.2018.00447
PMC
PMC6232527
OpenAlex
W2900263378
Cited by
122
References
1
Citations by year
2026: 6 · 2025: 18 · 2024: 25 · 2023: 20 · 2022: 20 · 2021: 12 · 2020: 12 · 2019: 7 · 2018: 2
FWCI
7.30
Type
journal article
Language
en
Open access
Licence
Locations
  • Frontiers in Genetics (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
Keywords
polydactyly, preaxial polydactyly, central polydactyly, postaxial polydactyly, limb development, autosomal dominant inheritance, Gli3, PITX1, Gli1, genetic loci, molecular diagnosis, genetic counseling

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