Schwartz Jampel syndrome
Other Names for this Disease
- Aberfeld syndrome
- Burton skeletal dysplasia
- Burton syndrome
- Catel-Hempel syndrome
- Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
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Tests & Diagnosis
The diagnosis of Schwartz Jampel syndrome (SJS) is suspected based on clinical findings including characteristic facial features, skeletal features, and muscle stiffness (myotonia). Studies that may be useful in diagnosing SJS include: blood tests (which may show elevated serum creatine kinase or adolase); imaging studies; muscle biopsy; and electromyography (EMG)/nerve conduction studies. Genetic testing of the HSPG2 gene may additionally be helpful to confirm the diagnosis.
Last updated: 4/13/2016
- Ault J. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; http://emedicine.medscape.com/article/1172013-overview.
- Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, N. Gayathri, Sumanth Shivaram. Schwartz–Jampel syndrome. J Pediatr Neurosci. Apr-Jun 2015; 10(2):169-171. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.