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Multiple sulfatase deficiency

Disease definition

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

ORPHA:585

  • Synonym(s):
    • Juvenile sulfatidosis, Austin type
    • MSD
    • Mucosulfatidosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 272200
  • UMLS: C0268263  C1720864
  • MeSH: -
  • GARD: 5061
  • MedDRA: -

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