Signs include mildly coarsened facial features, deafness, ichthyosis[7] and an enlarged liver and spleen (hepatosplenomegaly).

[9] Children affected by this disorder develop more slowly than normal and may display delayed speech and walking skills.

[10] These sulfatase enzymes are responsible for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome.

[9] Multiple sulfatase deficiency is caused by any mutation of the SUMF1 gene which renders its protein product, the formylglycine-generating enzyme (FGE), defective.

[2] The inheritance probabilities per birth are as follows: MSD may be diagnosed when deficiency of more than one sulfatase enzyme is identified in leukocytes or fibroblasts,[16] or by molecular genetic testing which shows pathogenic variation in both alleles of the SUMF1 gene.