Among these, EDA mutations could cause SH, which appears as an X-linked hypohidrotic ectodermal dysplasia (XLHED) clinical feature, and they have also been linked to isolated tooth agenesis, most likely due to complete or partial disruption of the EDA signalling pathway [8, 9]. The gene discussed is EDA; the disease is X-linked hypohidrotic ectodermal dysplasia.