IFT140 was implicated in several ciliopathies, including Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly (SRTD9: 266920), [also known as Mainzer–Saldino syndrome (MSS), conorenal syndrome and Jeune asphyxiating thoracic dystrophy], nonsyndromic retinitis pigmentosa, syndromic congenital retinal dystrophy, and autosomal dominant polycystic kidney disease (Schmidts et al. 2013; Xu et al. 2015; Bifari et al. 2016; Bayat et al. 2017; Helm et al. 2017; Ali et al. 2023). Here, IFT140 is linked to short-rib thoracic dysplasia 9 with or without polydactyly.