title: GLI3-related polydactyly: a review.
abstract: GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detailed review of the genotype-phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing GLI3-related syndromes/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS. The review also introduces the term 'Forme Fruste' preaxial polydactyly and gives several conclusions/recommendations including the recommendation to revise the current criteria for the clinical diagnosis of PHS.
authors.affiliation: Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: M M
authors.initials: MM
authors.lastname: Al-Qattan
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
authors.forename: H E
authors.initials: HE
authors.lastname: Shamseldin
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: M A
authors.initials: MA
authors.lastname: Salih
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.|Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: F S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D056726:Genetic Association Studies; D006801:Humans; D017689:Polydactyly / Q000196:embryology / Q000235:genetics*; D013577:Syndrome; D000074290:Zinc Finger Protein Gli3 / Q000235:genetics*
chemical_list: D000074290:Zinc Finger Protein Gli3
keywords: GLI3; Greig cephalopolysyndactyly; Pallister-Hall; polydactyly