Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 23-01-2009
Symbol EDS3
Location 2q32.2
Name Ehlers-Danlos syndrome, type III
Other name(s) benign hypermobility syndrome
Corresponding gene COL3A1
Other symbol(s) EDSIII
Main clinical features
  • generalized joint hypermobility, minor hyperextensibility and softness of the skin
  • marked joint hyperextensibility without skeletal deformity
  • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease