Schwartz-Jampel syndrome

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Schwartz-Jampel syndrome
Glossaries - Disabilities
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An A to Z glossary of disabilities

A rare genetic disorder characterised 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).

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