Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Schwartz Jampel syndrome


Other Names for this Disease
  • Aberfeld syndrome
  • Burton skeletal dysplasia
  • Burton syndrome
  • Catel-Hempel syndrome
  • Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Schwartz Jampel syndrome (SJS) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle stiffness and weakness; abnormal bone development; joint contractures; short stature; small, fixed facial features; and eye abnormalities (some of which may impair vision).[1] SJS was divided into SJS type 1 and SJS type 2 (also referred as neonatal Schwartz Jampel syndrome). SJS type 2 is now considered a distinct, more severe condition called Stuve-Wiedemann syndrome, which is caused by mutations in the LIFR gene.[2][1] SJS type 1 is subdivided in type 1A and type 1B, differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. People with type 1A typically develop more mild symptoms later in childhood, while people with type 1B have symptoms that are more severe and are apparent immediately after birth.[3] SJS type 1 is caused by mutations in the HSPG2 gene.[2] SJS type 1 is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.[1] Treatment for both type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as Botulinum toxin, and surgery.[3] 

Last updated: 4/6/2016

References

  1. Pearl PL & Philip S. Schwartz Jampel syndrome. National Organization of Rare Diseases. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1058/viewAbstract.
  2. Schwartz-Jampel syndrome. Online Mendelian Inheritance in Man. 2010; http://omim.org/entry/255800.
  3. Ault J. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; http://emedicine.medscape.com/article/1172013-overview.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • Genetics Home Reference (GHR) contains information on Schwartz Jampel syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Schwartz Jampel syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Aberfeld syndrome
  • Burton skeletal dysplasia
  • Burton syndrome
  • Catel-Hempel syndrome
  • Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.