Fucosidosis
Fucosidosis
Definition
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 — per MONDO