In fact, pathogenic variation in IFT140 has also been reported in patients with Mainzer-Saldino Syndrome (MSS), Jeune Syndrome (JATD), Opitz trigonocephaly C syndrome (OTCS), and isolated retinal dystrophy [13, 14]. Here, IFT140 is linked to short-rib thoracic dysplasia 9 with or without polydactyly.