The Y-shaped metacarpian has been already correlated with mutation in BBS17/LZTFL1 (Schaefer et al., 2014) that is now extended to IFT27. One can notice also that 2 patients had cone-rod dystrophy (our patient and family 2), a rare condition already described in BBS (Scheidecker et al., 2015). The gene discussed is IFT27; the disease is cone-rod dystrophy.