KIAA0586 and orofaciodigital syndrome: Polymicrogyria, which was found in combination of the “molar tooth” sign and pontocerebellar hypoplasia in patient 2, is a rare finding in ciliopathies, but seem typical of short-rib-polydactyly (SRP) associated with KIAA0586. [3,15] The phenotype associated with the KIAA0586 c.1815G>A variant is quite peculiar with micropolygyria, partially connecting the skeletal anomalies of SRP, the oral anomalies of OFD and the cerebellar malformations of Joubert syndrome (Table 2).