Multiple Sulfatase Deficiency

Important
It is possible that the main title of the report Multiple Sulfatase Deficiencyis not the name you expected.

Synonyms

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.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy
91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
accueil@vml-asso.org
http://www.vml-asso.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton
MA
02135
USA
Tel: (617)277-4463
Fax: (617)277-0134
800: (800)906-8723
info@ntsad.org
http://www.NTSAD.org

Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales
PA
19454
Tel: (215)619-0670
Fax: (215)619-0780
800: (800)545-3286
info@scalyskin.org
http://www.scalyskin.org

ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
Laxou
54520
France
Tel: 33 383 30 93 34
Fax: 33 383 30 00 68
ela@ela-asso.com
http://www.ela-asso.com

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood
CA
91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
info@hideandseek.org
http://www.hideandseek.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 2/25/2008
Copyright 1988, 1989, 1990, 2003 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: February 25, 2008

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