A recent analysis of OFD-affected individuals has found that a subset of cases are linked to mutations in C2CD3, a distal centriolar protein that promotes centriole elongation and the recruitment of other distal centriolar proteins, including OFD1 (Thauvin-Robinet et al., 2014; Ye et al., 2014). The gene discussed is C2CD3; the disease is orofaciodigital syndrome.