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Multiple Sulfatase Deficiency

Abstract

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Synonyms of Multiple Sulfatase Deficiency

  • Disorder of Conification 13
  • DOC 13 (Multiple Sulfatase Deficiency)
  • Mucosulfatidosis
  • Multiple Sulfatase Deficiency (DOC 13)
  • Multiple Sulfatase Deficiency Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Multiple sulfatase deficiency is a very rare hereditary metabolic disorder in which all of the known sulfatase enzymes (thought to be seven in number) are deficient or inoperative. Major symptoms include mildly coarsened facial features, deafness, and an enlarged liver and spleen (hepatosplenomegaly). Abnormalities of the skeleton may occur, such as curvature of the spine (lumbar kyphosis) and the breast bone. The skin is usually dry and scaly (ichthyosis). Before symptoms are noticeable, children with this disorder usually develop more slowly than normal. They may not learn to walk or speak as quickly as other children.

Organizations related to Multiple Sulfatase Deficiency

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