National Survey of Prevalence and Prognosis of Thanatophoric Dysplasia in Japan

Background Thanatophoric dysplasia (TD) is a rare congenital disease of the skeletal system, with an incidence of 1.68–8.3 per 100 000 births, but statistical data on the estimated number of TD patients across Japan are not available. The aim of this study was therefore to investigate the prevalence and prognosis of TD in Japan.