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Schwartz-Jampel syndrome (SJS1)
Epidemiology: rare
Genetics:
- autosomal recessive
- associated with defects in HSPG2
Clinical manifestations:
- permanent myotonia
- skeletal dysplasia, resulting in
a) short stature
b) kyphoscoliosis
c) bowing of the diaphyses & irregular epiphyses
General
developmental disorder
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
OMIM :accession 255800