Until the recent identification of MYH3 variants associated with contractures, pterygia and spondylocarpotarsal fusion syndromes 1A and 1B, most pathogenic variants in MYH3 were associated with DA2A (Freeman–Sheldon syndrome, MIM #193700) and DA2B3 (Sheldon–Hall syndrome, MIM #601680), which are both characterized by limb contractures without vertebral anomalies2,3,14,15 as summarized in Supplementary Table 1. The gene discussed is MYH3; the disease is Freeman-Sheldon syndrome.