Omodysplasia is a rare severe skeletal dysplasia caused by loss of GPC6 — characterised by limb shortening and craniofacial abnormalities. Until now its molecular basis has been unclear. We show it likely arises from collapse of WNT5A gradients and pathological ERK activation. #omodysplasia

Loss of GPC6 generates a molecular hybrid of 2 developmental diseases: WNT5A deficiency characteristic of Robinow syndrome and pathological ERK activation characteristic of the RASopathies. Omodysplasia caused by loss of GPC6 overlaps both disease classes. #omodysplasia #RASopathy #Robinow