Catalog

Fucosidosis

No MMS code

Link to WHO Definition

Fucosidosis – http://id.who.int/icd/entity/1470242510

Fucosidosis is a very rare lysosomal storage disorder belonging to the group of oligosaccharidoses or glycoproteinoses. Manifestations include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. Every intermediate form exists, ranging from severe (type 1: onset between 3 and 18 months of age) to moderate (type 2, with a slower progression).