Multiple sulfatase deficiency
Synonyms: Juvenile sulfatidosis, Austin type | MSD | Mucosulfatidosis
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Multiple sulfatase deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.