Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Multiple Sulfatase Deficiency


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



    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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    Organizations related to Multiple Sulfatase Deficiency
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • ELA - European Association against Leukodystrophies
      2, rue Mi-les-Vignes
      Laxou None 54520
      Phone #: 33 -383- 30 93 34
      800 #: --
      e-mail: ela@ela-asso.com
      Home page: http://www.ela-asso.com
    • Foundation for Ichthyosis & Related Skin Types
      1364 Welsh Road G2
      North Wales PA 19454
      Phone #: 215-619-0670
      800 #: 800-545-3286
      e-mail: info@scalyskin.org
      Home page: http://www.scalyskin.org
    • Hide & Seek Foundation for Lysosomal Disease Research
      4123 Lankershim Blvd.
      North Hollywood CA 91602-2828
      Phone #: 818-762-8621
      800 #: N/A
      e-mail: info@hideandseek.org
      Home page: http://www.hideandseek.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • National Tay-Sachs and Allied Diseases Association, Inc.
      2001 Beacon Street
      Brighton MA 02135
      Phone #: 617-277-4463
      800 #: 800-906-8723
      e-mail: info@ntsad.org
      Home page: http://www.NTSAD.org
    • Vaincre Les Maladies Lysosomales
      2 ter avenue de Fance
      Massy None 91300
      Phone #: 01 -69 -75 40 30
      800 #: --
      e-mail: accueil@vml-asso.org
      Home page: http://www.vml-asso.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