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Genetic and Rare Diseases Information Center (GARD)

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Schwartz Jampel syndrome type 1


Other Names for this Disease

  • Chondrodystrophic myotonia
  • Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
  • Schwartz Jampel Aberfeld syndrome
  • Schwartz Jampel syndrome
  • SJA syndrome
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 is a disease of bone and muscle. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures,  short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). The range and severity of symptoms vary from case to case.[1]  It is caused by mutations in the HSPG2 gene which makes a protein called perlecan.[2]

There is a more severe, distinct condition called Stuve-Wiedemann syndrome which is caused by mutations in the LIFR gene. At one time cases of Stuve-Wiedemann syndrome were referred to as Neonatal Schwartz Jampel syndrome type 2. Click on the link above to learn more about this syndrome.[2][1]
Last updated: 2/24/2012

References

  1. Pearl PL, Philip S. Schwartz Jampel syndrome. National Organization of Rare Diseases. 2003; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1058/viewAbstract. Accessed 2/24/2012.
  2. Schwartz-Jampel syndrome. Online Mendelian Inheritance in Man. 2010; http://omim.org/entry/255800. Accessed 2/24/2012.
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Basic Information

  • 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. Click on the link to view this information. 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 type 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chondrodystrophic myotonia
  • Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
  • Schwartz Jampel Aberfeld syndrome
  • Schwartz Jampel syndrome
  • SJA syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.