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Diseases

Genetic and Rare Diseases Information Center (GARD)

Schwartz Jampel syndrome type 1


Other Names for this Disease
  • SJS1
  • Schwartz Jampel syndrome
  • Schwartz Jampel Aberfeld syndrome
  • Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
  • 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 type 1 (SJS1) is a genetic disorder that affects bone and muscle development. 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).[1] SJS1 can be divided into two subtypes differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. Individuals with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth.[2] SJS1 is caused by mutations in the HSPG2 gene which makes a protein called perlecan.[3] SJS1 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.[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.[3][1]
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. Jennifer Ault. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; http://emedicine.medscape.com/article/1172013-overview.
  3. Schwartz-Jampel syndrome. Online Mendelian Inheritance in Man. 2010; http://omim.org/entry/255800.
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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. 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
  • SJS1
  • Schwartz Jampel syndrome
  • Schwartz Jampel Aberfeld syndrome
  • Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
  • 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.