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This review summarizes evidence linking IFT172 dysfunction to neurological, retinal, skeletal, renal, and syndromic ciliopathy phenotypes, with emphasis on Bardet\u2010Biedl syndrome, Joubert\u2010spectrum disease, orofaciodigital syndrome, Mainzer\u2013Saldino syndrome, and retinal degeneration. Current data support a primary role for IFT172 in IFT\u2010train assembly, tip remodeling, anterograde\u2010to\u2010retrograde transition, and cilia\u2010dependent signaling; downstream metabolic, oxidative, and inflammatory changes are interpreted as context\u2010dependent secondary modules rather than uniform linear cascades. We further discuss diagnostic interpretation and the practical boundaries of gene, splice\u2010correction, and pathway\u2010modulation strategies. 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