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Multiple sulfatase deficiency

Synonym(s) Juvenile sulfatidosis, Austin type
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • E75.2
  • C0268263
  • C1720864
MeSH -
MedDRA -


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.

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