Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 19-04-2010
Symbol SJS1
Location 1p36.12
Name Schwartz-Jampel syndrome, type 1
Other name(s)
  • chondrodystrophic myotonia
  • myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities
  • Corresponding gene HSPG2
    Main clinical features
  • progressive disorder characterized by short stature, myotonic myopathy, dystrophy of epiphyseal cartilages, joint contractures, blepharophimosis, unusual pinnae, myopia, and pigeon breast
  • general anesthesia was hazardous because of a propensity to malignant hyperthermia, and endotracheal intubation was difficult because of shortness and rigidity of the neck and the small size of the laryngeal structures
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    congenital malformation
    Type disease
    Gene product
    Name perlecan, heparan sulfate proteoglycan 2
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein involving cysteine residues led to intracellular retention of perlecan, probably due to quality control pathways
    abnormal splicing   truncated protein