Symptoms of this disorder commonly appear between one and two years of age. Symptoms include mildly coarsened facial features, deafness, ichthyosis and an enlarged liver and spleen (hepatosplenomegaly). Abnormalities of the skeleton, such as a curving of the spine and breast bone may occur. The skin of individuals afflicted with this disorder, is typically dry. Children affected by this disorder develop more slowly than normal and may display delayed speech and walking skills. The disease is fatal, with symptoms that include neurological damage and severe mental retardation. These<unk>  enzymes are responsible for breaking down and recycling complex sulfate-containing sugars from lipids and mucopolysaccharides within the lysosome. The accumulation of lipids and mucopolysaccharides inside the lysosome results in symptoms associated with this disorder. , 75–100 cases of<unk>  had been reported worldwide.
Multiple sulfatase deficiency
Beta-ketothiolase deficiency
17β-Hydroxysteroid dehydrogenase III deficiency
5α-Reductase 2 deficiency
Mevalonate kinase deficiency
Prolidase deficiency
Cortisone reductase deficiency
Pure hair-nail type ectodermal dysplasia