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Multiple Sulfatase Deficiency

National Organization for Rare Disorders, Inc.


It is possible that the main title of the report Multiple Sulfatase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


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

Disorder Subdivisions

  • None

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.


CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174



Vaincre Les Maladies Lysosomales

2 Ter Avenue

Massy, 91300


Tel: 0169754030

Fax: 0160111583



National Tay-Sachs and Allied Diseases Association, Inc.

2001 Beacon Street


Brookline, MA 02146-4227


Tel: (617)277-4463

Fax: (617)277-0134

Tel: (800)906-8723



Foundation for Ichthyosis & Related Skin Types

2616 N Broad Street

Colmar, PA 18915

Tel: (215)997-9400

Fax: (215)997-9403

Tel: (800)545-3286



ELA - European Association Against Leukodystrophies

2, rue Mi-les-Vignes


Laxou Cedex, 61024


Tel: 33383309334

Fax: 33383300068



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981


Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223


Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  2/25/2008

Copyright  1988, 1989, 1990, 2003 National Organization for Rare Disorders, Inc.

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