To date, only two CED patients harboring IFT140 mutations have been described in literature: a male patient, reported by Bayat et al., who received a kidney transplant at the age of 4 years [8] and a female patient, described by Geoffroy et al., who developed end-stage renal failure, requiring dialysis at the age of 3.8 years and a renal transplant thereafter [12]. Here, IFT140 is linked to cranioectodermal dysplasia.