In the HGMD database, we found that mutations in the FGFR3 gene are associated with a variety of diseases, including hypochondroplasia, thanatophoric dysplasia, achondroplasia, craniosynostosis、lacrimo-auriculo-dento-digital syndrome, acanthosis nigricans, prostate cancer and wilms tumour, of which 28 mutations were identified for hypochondroplasia, 15 mutations for thanatophoric dysplasia and 11 mutations for ACH, as shown in Table 2. The gene discussed is FGFR3; the disease is thanatophoric dysplasia.