Skip to content
My WebMD Sign In, Sign Up

Children's Health

Font Size

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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
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
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 of Rare Disorders

Last Updated: February 25, 2014
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.

Today on WebMD

child with red rash on cheeks
What’s that rash?
plate of fruit and veggies
How healthy is your child’s diet?
 
smiling baby
Treating diarrhea, fever and more.
Middle school band practice
Understanding your child’s changing body.
 

worried kid
fitArticle
boy on father's shoulder
Article
 
Child with red rash on cheeks
Slideshow
girl thinking
Article
 

babyapp
New
Child with adhd
Slideshow
 
rl with friends
fitSlideshow
Syringes and graph illustration
Tool
 
6-Week Challenges
Want to know more?
Chill Out and Charge Up Challenge – How to help your tribe de-stress and energize.
Spark Change Challenge - Ready for a healthy change? Get some major motivation.
I have read and agreed to WebMD's Privacy Policy.
Enter cell phone number
- -
Entering your cell phone number and pressing submit indicates you agree to receive text messages from WebMD related to this challenge. WebMD is utilizing a 3rd party vendor, CellTrust, to provide the messages. You can opt out at any time.
Standard text rates apply