Abstract: We report a case of congenital ectodermal dysplasia (Cectodermal dysplasia), a rare heterogeneous genetic disease, mostly X-linked. In this paper, a patient with sparse hair, no sweat secretion and partial tooth loss for 49 years was reported. His daughter had partial tooth loss and secondary intellectual disability. Genetic testing of the patient revealed a mutation site EDA c.463C>T(p.R155C), and another suspected mutation site PRKD1 c.535+3A>G(splicing), which were inherited from the patient's mother. There is no effective and approved treatment for congenital ectodermal dysplasia at present, and symptomatic treatment is the main treatment. Timely prenatal screening and diagnosis can provide the opportunity of termination of pregnancy and prenatal treatment for patients with EDA mutation.

Key words: congenital ectoderm dysplasia, X-linked, EDA, Sanger sequencing