Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:585

Multiple sulfatase deficiency

Also called Austin disease, MSD, Mucosulfatidosis

Body system
Neurological diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Adolescent, Antenatal, Childhood, Infancy, Neonatal
Estimated prevalence
1-9 / 1 000 000 (Worldwide)
Rarity class
1-9 / 1 000 000

ORPHA:585 is classified under "Neurological diseases" in the Orphanet nomenclature.

Common signs

  • Visual impairment
  • Intellectual disability
  • Global developmental delay
  • Neonatal hypotonia
  • Splenomegaly
  • Hepatomegaly