In addition to JBTS23, dysfunction of KIAA0586 may cause a more severe ciliopathy known as Short-rib thoracic dysplasia 14 with polydactyly (SRTD14; OMIM# 616546), a complex syndrome with skeletal and neurological manifestations [6]. Here, KIAA0586 is linked to short-rib thoracic dysplasia 14 with polydactyly.