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    Schwartz Jampel Syndrome

    Important
    It is possible that the main title of the report Schwartz Jampel Syndrome 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.

    Synonyms

    • SJS
    • chondrodystrophic myotonia
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies
    • Schwartz-Jampel-Aberfeld syndrome
    • SJA syndrome

    Disorder Subdivisions

    • Schwartz-Jampel syndrome, type 2
    • Schwartz-Jampel syndrome, types 1A and 1B

    General Discussion

    Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from case to case. Two types of the disorder have been identified that may be differentiated by age of onset and other factors. SJS type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. SJS type 2, a more rare form of the disorder, is typically recognized at birth (congenital). Most researchers now believe that SJS type 2 is actually the same disorder as Stuve-Wiedemann syndrome and not a form of SJS. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)

    SJS is thought to be inherited as an autosomal recessive trait. However, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.

    Resources

    Malignant Hyperthermia Association of the United States
    1 North Main St
    PO Box 1069
    Sherburne, NY 13460
    USA
    Tel: (607)674-7901
    Fax: (607)674-7910
    Email: info@mhaus.org
    Internet: http://www.mhaus.org

    Lighthouse International
    111 E 59th St
    New York, NY 10022-1202
    Tel: (800)829-0500
    Email: info@lighthouse.org
    Internet: http://www.lighthouse.org

    International Children's Anophthalmia Network (ICAN)
    c/o Center for Devel Medicine & Genetics
    5501 Old York Road
    Genetics Levy 2 West
    Philadelphia, PA 19141
    USA
    Tel: (215)456-8722
    Fax: (215)456-2356
    Tel: (800)580-4226
    Email: ican@anophthalmia.org
    Internet: http://www.anophthalmia.org

    National Association for Parents of Children with Visual Impairments (NAPVI)
    P.O. Box 317
    Watertown, MA 02272-0317
    Tel: (617)972-7441
    Fax: (617)972-7444
    Tel: (800)562-6265
    Email: napvi@perkins.org
    Internet: http://www.napvi.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    Anophthalmia/Microphthalmia Registry
    Albert Einstein Medical Center
    5501 Old York Rd
    Genetics Levy 2 West
    Philadelphia, PA 19141
    Tel: (215)456-8722
    Fax: (215)456-2356
    Email: bardakjiant@einstein.edu
    Internet: http://www.einstein.edu/yourhealth/genetic/article15698.html

    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
    Internet: http://rarediseases.info.nih.gov/GARD/

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

    Last Updated: 10/11/2012
    Copyright 1996, 1999, 2003, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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