Galactosialidosis
Galactosialidosis
Definition
A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Also known as galactosialidosis, Goldberg syndrome, neuraminidase deficiency with beta-galactosidase deficiency — per MONDO