Schwartz-Jampel syndrome

Search for glossary terms (regular expression allowed)

Glossaries

Term Main definition
Schwartz-Jampel syndrome
Glossaries - Disabilities
Glossaries Description -

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).

Hits - 385
comments powered by Disqus
Help support us continuing our groundbreaking work. Make a donation to help with our running costs, and support us with continuing to bring you all the latest news, reviews and accessibility reports. Become a supporter or sponsor of Able2UK today!

Able2UK Logo