Related Experiment Video
Updated: Mar 7, 2026
10:23
Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
3.8K
GLI3-related polydactyly: a review
M M Al-Qattan1, H E Shamseldin2, M A Salih3
1Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Clinical Genetics
|February 23, 2017
Summary
GLI3 gene mutations cause various polydactyly syndromes. This review proposes classifying these conditions into four distinct entities based on polydactyly patterns, aiding diagnosis.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- GLI3 mutations are linked to numerous syndromes featuring polydactyly.
- Understanding the embryology and pathogenesis of GLI3-related polydactyly is crucial.
Purpose of the Study:
- To review the embryology, pathogenesis, and animal models of GLI3-related polydactyly.
- To analyze genotype-phenotype correlations for GLI3-related conditions.
- To propose a revised classification of GLI3-related syndromes.
Main Methods:
- Comprehensive literature review.
- Analysis of clinical experiences and case studies.
- Examination of animal models and embryological data.
Main Results:
- GLI3 mutations are associated with nine polydactyly-related conditions.
- A classification into four distinct entities is proposed: preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome.
- A novel GLI3 mutation causing PHS was identified.
Conclusions:
- GLI3-related syndromes should be viewed as four separate entities based on polydactyly patterns.
- The term 'Forme Fruste' preaxial polydactyly is introduced.
- Current diagnostic criteria for PHS may require revision.
