Ciliary genes exhibiting expression changes during osteoblastic differentiation were associated with skeletal ciliopathies (Meckel-Gruber syndrome, Meckel syndrome type 2, Meckel syndrome type 13 and orofaciodigital syndrome type 16), and other skeletal pathologies, including frontometaphyseal dysplasia (Flna), spondylometaphyseal dysplasia (Trip11 and Ift20), osteofibrous dysplasia (Tmem107 and Tmem216) and polydactyly (Bbip1, Flna, Arl3, Tmem107, Cby1, Cep164, Lztfl1 and Tmem216) (data not shown). This evidence concerns the gene TMEM216 and spondylometaphyseal dysplasia.