Here we describe two novel genes identified in patients with clinical features consistent with OFD VI: CEP164, previously identified as causal for the ciliopathies nephronophthisis, JS and Bardet Biedl syndrome, and TOPORS, a gene associated with the autosomal dominant ciliopathy RP, but never before with syndromic ciliopathy. The gene discussed is CEP164; the disease is orofaciodigital syndrome.