Mutations producing either SRPS/ATD spectrum and/or CED have been identified in members of the ciliary intraflagellar transport-A (IFT-A) complex (Table 1): IFT144/WDR19 [OMIM 608151], IFT122/WDR140/WDR10 [OMIM 218330], IFT121/WDR35 [OMIM 613610], and IFT43 [OMIM 614099] that has thus far only been associated with CED [23–27]. Here, IFT122 is linked to Jeune syndrome.