Schwartz Jampel syndrome type 1

Common Name(s)

Schwartz Jampel syndrome type 1

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.   It is caused by mutations in the HSPG2 gene which makes a protein called perlecan.

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schwartz Jampel syndrome type 1" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
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The terms "Schwartz Jampel syndrome type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.