For instance, biallelic variants in CEP120 results in Joubert syndrome 31 and severe short-rib thoracic dysplasia type 13 while spectrum of KIAA0753 related conditions extends to Joubert syndrome 38, orofaciodigital syndrome XV andshort-rib thoracic dysplasia 21without polydactyly [1, 19, 20]. The gene discussed is KIAA0753; the disease is orofaciodigital syndrome I.