KIAA0753 is a centrosomal protein essential for primary ciliogenesis and centriole biogenesis 1. It functions as a centriolar satellite protein that positively regulates CEP63 centrosomal localization and promotes CDK2 centrosomal recruitment 2. KIAA0753 is recruited to centrioles by CEP120 and forms a complex with OFD1 and FOR20 at pericentriolar satellites, possessing microtubule-stabilizing activity 34. Loss of KIAA0753 blocks primary ciliogenesis and impairs sonic hedgehog (SHH) pathway signaling, which is critical for neural and skeletal development 1. KIAA0753 enhances osteoblast differentiation through direct interaction with SHH, activating Hedgehog signaling and protecting Gli2 from ubiquitination 5. Pathogenic KIAA0753 variants cause multiple ciliopathies with overlapping phenotypes, including Joubert syndrome (cerebellar vermis hypoplasia, developmental delay) 14, orofaciodigital syndrome (facial and digital abnormalities) 36, and short-rib thoracic dysplasia with skeletal dysplasia 7. Patient fibroblasts demonstrate deficient primary ciliation and blunted SHH pathway responses 1. KIAA0753 variants also associate with ciliary dyskinesia and neuro-degenerative complications 8. The phenotypic heterogeneity reflects variable functional competence of mutant proteins in promoting ciliogenesis and centrosomal localization.