CFAP410 and spondyloepimetaphyseal dysplasia, Strudwick type: Similarly, two novel mutations in the C21orf2 gene, a frameshift and a damaging missense substitution in a highly conserved position within the leucine-rich repeats (S1 Fig), re-classified a non-syndromic cone-rod dystrophy to the recently reported spondylometaphyseal dysplasia syndrome (SMD), where RP is associated to severe thoracic abnormalities.