The analysis results revealed that elevated levels of Interleukin-17 (IL-17) and macrophage Migration Inhibitory Factor (MIF) may be associated with an increased risk of TD (OR = 2.329, 95 % CI [1.069–5.078], p = 0.033; OR = 2.267, 95 % CI [1.097–4.686], p = 0.027), whereas elevated levels of Platelet-Derived Growth Factor BB (PDGF-BB) were associated with a decreased incidence of TD (OR = 0.750, 95 % CI [0.387–1.453], p = 0.023). The gene discussed is MIF; the disease is thanatophoric dysplasia.