Interestingly, mutations in the human GDF3 gene have been found to be causative of KFS (Jalil et al., 2008; Chacón-Camacho et al., 2012; Futane and Salunke, 2013; Karaca et al., 2015; Abdali et al., 2021). Here, GDF3 is linked to Klippel-Feil syndrome 1, autosomal dominant.