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.

Also known as: MSD, Multiple Sulfatase Deficiency, juvenile sulfatidosis, Austin type, mucosulfatidosis, multiple sulfatase deficiency disease, sulfatidosis, juvenile, Austin type, juvenile sulfatidosis, multiple sulfatase deficiency

4 clinical trials for this condition and its sub-types, 4 tagged with Mucosulfatidosis itself.