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Related Experiment Video

Updated: May 8, 2026

Manipulation of Ploidy in Caenorhabditis elegans

Manipulation of Ploidy in Caenorhabditis elegans

Published on: March 15, 2018

Polydactyly: phenotypes, genetics and classification.

¹Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Clinical Genetics

|September 12, 2013

Summary

This summary is machine-generated.

Polydactyly, a common hereditary limb difference, involves extra digits and shows significant variability. Research highlights shared molecular pathways, like GLI3 and SHH, in its development, suggesting potential classification refinements.

Keywords:

additional digits classification clinical variability genetic heterogeneity polydactyly

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Polydactyly is a frequent hereditary limb malformation characterized by extra digits.
It represents the most common congenital limb defect, exhibiting significant clinical variability.
Existing classification systems struggle to fully capture its heterogeneity.

Purpose of the Study:

To review well-characterized, non-syndromic polydactyly in humans.
To present cardinal features, phenotypic variability, and molecular advances for each type.
To explore the genetic and developmental basis of polydactyly.

Main Methods:

Literature review of polydactyly classification and molecular studies.
Analysis of phenotypic variability and genetic heterogeneity.
Examination of molecular pathways involved in digit development.

Main Results:

Polydactyly results from a failure in controlling digit number during development.
Mutations in GLI3 and the ZRS/SHH enhancer are implicated in overlapping phenotypes.
Six distinct polydactyly entities may be grouped due to shared molecular cascades.

Conclusions:

Shared molecular mechanisms, particularly involving GLI3 and SHH, underlie various polydactyly types.
This suggests a potential lumping of several distinct polydactyly entities.
Significant genetic heterogeneity is expected across diverse populations.