Anderson–Fabry disease (AFD), an X-linked lysosomal storage disorder, is caused by the deficiency or the absence of the alpha-galactosidase A (α-Gal-A), which leads to an accumulation of globotriaosylceramide/ceramide trihexoside (Gb3) and other glycosphingolipids in the lysosomes of several cells types, mainly the endothelial, neuronal, cardiac and renal cells. Here, GLA is linked to Nager acrofacial dysostosis.