To be precise, TBS is known as Downs-Brock syndrome, an autosomal dominant congenital anomaly syndrome, and it has been shown that TBS is the result of a mutation in the SALL1 gene.TBS6 related 6 mutations in the SALL1 gene may be indicative of diseases such as malformation of the ear, polydactyly of the thumb, and anogenital malformations. TBS6 gene mutation is usually a congenital disease, is the fetus in the process of growth and development by external factors, which led to the phenomenon of mutations in the fetal meridian. SALL16 gene mutation in TBS6 patients can occur at any period of development, including interphase of cell division, intermeiosis, mitotic gap, etc. Meanwhile, gene mutation is also one of the important factors of biological evolution. Patients with TBS6-related gene mutations should pay attention to timely consultation and regular review to prevent adverse reactions.