Background: Greig cephalopolysyndactyly syndrome (GCPS) is an uncommon entity characterised by polysyndactyly and craniofacial features. The syndrome is not defined by classic signs. Instead there is a high variability in phenotypes observed. This is due to the large number of different mutations in the glioma-associated oncogene 3 (GLI3) that can give rise to the syndrome. We present a case series of five un-related individuals with GCPS treated in our hand surgery unit with different phenotype presentations of GCPS.
Conclusion: An awareness of the diversity in phenotypes is important for diagnosis and early referral for genetic confirmation and counselling.
Keywords: Congenital hand deformity; GCPS; Polydactyly; Syndactyly.