Fucosidosis

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

Also known as: Alpha-L-fucosidase deficiency, fucosidosis, lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

66 clinical trials for this condition and its sub-types.