MEDICAL DICTIONARY
Schwartz-Jampel syndrome: A syndrome characterized by short stature, blepharophimosis (horizontal narrowing of the eye slits), joint limitation, and myotonia (prolonged muscle contractions with a delay in relaxation) The syndrome is inherited in an autosomal recessive manner and is due to mutations in the gene encoding perlecan on chromosome 1p36.1. The syndrome is also known as chondrodystrophic myotonia. Named for the American ophthalmologist Oscar Schwartz and neuro-ophthalmologist Robert Steven Jampel who described the syndrome in 1962. (The syndrome was first described in 1961 by Pinto and de Sousa in a Portuguese medical journal.)
|
DISCLAIMER:
Information on this site is provided for informational
purposes and is not meant to substitute for the advice
provided by your own physician or other medical professional.
You should not use the information contained herein
for diagnosing or treating a health problem or disease,
or prescribing any medication. You should read carefully
all product packaging. Not all Canadian drugs, Canada
prescription and Canadian prescription medicine is available
at discount Canadian on line pharmacies. If you have
or suspect that you have a medical problem, promptly
contact your health care provider. Information and statements
regarding diet supplements have not been evaluated by
Health Canada and are not intended to diagnose, treat,
cure, or prevent any disease. All trade and service
marks mentioned on this site are recognized as belonging
to their respective owners.
|
|
|
|
