WNT5A and autosomal dominant Robinow syndrome: Indeed, our previous work on autosomal dominant Robinow syndrome DVL1 frameshift mutations (1519ΔT, 1529ΔG and 1615ΔA) (Gignac et al., 2023) and a WNT5A missense mutation (248G>C) (Gignac et al., 2019; Hosseini-Farahabadi et al., 2017) found that the variants retained activity and were sufficient to reduce size and change bone shape.