Sialidosis type 2
Sialidosis type 2
Definition
A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
Also known as dysmorphic sialidosis, dysmorphic sialidosis with renal involvement, infantile dysmorphic sialidosis, mucolipidosis I, nephrosialidosis, NEU1 sialidosis, sialidosis caused by mutation in NEU1, sialidosis type II, sialidosis, type 2, sialidosis, type I — per MONDO