Schwartz Jampel Syndrome

National Organization for Rare Disorders, Inc.

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

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

Disorder Subdivisions

  • Schwartz-Jampel Syndrome, Types 1A and 1B
  • Schwartz-Jampel Syndrome, Type 2

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.
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Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: (212)889-3141
Fax: (212)727-2931
Email: staff@navh.org
Internet: http://www.navh.org

Malignant Hyperthermia Association of the United States (MHAUS)
11 East State Street
PO Box 1069
Sherburne, NY 13460-1069
USA
Tel: (607)674-7901
Fax: (607)674-7910
Email: info@mhaus.org
Internet: http://www.mhaus.org

International Children's Anophthalmia Network (ICAN)
c/o Center for Developmental Medicine and 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 02472
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Internet: http://www.napvi.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 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/Health_Info

NIH/National Eye Institute
Building 31 Rm 6A32
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/

Stopfer, Jill, M.S.
Intl. Children's Anophthalmia Ntwk.
Developmental Medicine/Genetics
Albert Einstein Medical Ctr.
5501 Old York Rd.
Philadelphia, PA 19141
Tel: (215)456-8722
Tel: (800)580-4226

Anophthalmia/Microphthalmia Registry
C/O Genetics
Albert Einstein Medical Center, Levy 2 West
5501 Old York Rd
Philadelphia, PA 19141
Tel: (215)456-8722
Fax: (215)456-2356
Email: schneida@einstein.edu
Internet: http://www.angelfire.com/mi/microphthalmia/icanqa.html

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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