Sequence variations in KIAA0586 cause a wide range of ciliopathies, ranging from a mild manifestation of Joubert syndrome, to multisystemic phenotypes with neurological, skeletal, renal, and ocular manifestations,[2,8] to lethal disorders such as hydrolethalus syndrome and short-rib polydactyly.[9,10] No specific genotype–phenotype correlations have been proposed to explain such a clinical variability, so far. The gene discussed is KIAA0586; the disease is ciliopathy.