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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

Classification level: Disorder
  • 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
  • ICD-11: 5C56.0Y
  • OMIM: 272200
  • UMLS: C0268263
  • MeSH: D052517
  • GARD: 5061
  • MedDRA: -

  A summary on this disease is available in Português (2005) Español (2015) Français (2015) Nederlands (2015) Deutsch (2005) Italiano (2005)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.