Variable phenotypes in Greig cephalopolysyndactyly sydrome (GCPS) and their relevance to plastic surgery

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.

An awareness of the diversity in phenotypes is important for diagnosis and early referral for genetic confirmation and counselling.