Diseases & Conditions


Schwartz Jampel Syndrome

Synonyms of Schwartz Jampel Syndrome
  • Chondrodystrophic Myotonia
  • Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies
  • Schwartz-Jampel-Aberfeld Syndrome
  • SJA Syndrome
  • SJS

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. Schwartz-Jampel syndrome type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. Schwartz-Jampel syndrome 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 Schwartz-Jampel syndrome. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)

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

Organizations related to Schwartz Jampel Syndrome
  • Anophthalmia/Microphthalmia Registry
    C/O Genetics
    Philadelphia PA 19141
    Phone #: 215-456-8722
    800 #: --
    e-mail: schneida@einstein.edu
    Home page: http://www.angelfire.com/mi/microphthalmia/icanqa.html
  • International Children's Anophthalmia Network (ican)
    5501 Old York Road
    Philadelphia PA 19141
    Phone #: 215-456-8722
    800 #: 800-580-4226
    e-mail: bardakjiant@einstein.edu
    Home page: http://www.anophthalmia.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/
  • Malignant Hyperthermia Association of the United States (MHAUS)
    11 East State Street
    Sherburne NY 13460-1069
    Phone #: 607-674-7901
    800 #: --
    e-mail: info@mhaus.org
    Home page: http://www.mhaus.org
  • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
    1 AMS Circle
    Bethesda MD 20892-3675
    Phone #: 301-495-4484
    800 #: 877-226-4267
    e-mail: NIAMSinfo@mail.nih.gov
    Home page: http://www.niams.nih.gov/Health_Info
  • NIH/National Eye Institute
    Building 31 Rm 6A32
    Bethesda MD 20892-2510
    Phone #: 301-496-5248
    800 #: --
    e-mail: 2020@nei.nih.gov
    Home page: http://www.nei.nih.gov/
  • National Association for Parents of Children with Visual Impairments (NAPVI)
    P.O. Box 317
    Watertown MA 02472
    Phone #: 617-972-7441
    800 #: 800-562-6265
    e-mail: napvi@perkins.org
    Home page: http://www.napvi.org
  • National Association for Visually Handicapped
    22 West 21st Street
    New York NY 10010
    Phone #: 212-889-3141
    800 #: --
    e-mail: staff@navh.org
    Home page: http://www.navh.org
  • Stopfer, Jill, M.S.
    Intl. Children's Anophthalmia Ntwk.
    Philadelphia PA 19141
    Phone #: 215-456-8722
    800 #: 800-580-4226
    e-mail: N/A
    Home page: N/A

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