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References OMIM Gene GeneReviews HGMD HGNC
last update : 22-05-2018
Symbol EDS1B
Location 2q32.2
Name Ehlers-Danlos syndrome, gravis classical type 1b
Corresponding gene COL5A2
Main clinical features
  • characterized by joint hyperextensibility fragile skin with widened atrophic scars joint, mitral valve prolapse, abnormally thin and steep corneas with floppy eyelids
  • loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars
  • skin is soft and transparent but not very extensible, and joint hypermobility is limited to the hands; severe and unexplained abdominal pain, repeated arterial ruptures
  • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name collagen type V, alpha 2 (COL5A2)