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Sialidosis type 2

Disease definition

Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis (see this term) 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.

ORPHA:87876

  • Synonym(s):
    • Infantile dysmorphic sialidosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Infancy, Childhood
  • ICD-10: E77.1
  • OMIM: 256150  256550
  • UMLS: C0268228  C3888317
  • MeSH: -
  • GARD: 7183
  • MedDRA: -

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