Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3, OMIM: 613091) covers a range of autosomal recessive or digenic recessive skeletal dysplasia characterized by shortened limbs, a narrow trunk, and associated visceral abnormalities with or without polydactyly (Chen et al., 2018; Cheng et al., 2022). Here, DYNC2H1 is linked to skeletal dysplasia.