Contributor: Gordon K. Klintworth
Ehlers-Danlos syndrome type I (classic severe form of Ehlers-Danlos syndrome, EDS 1) is one type of Ehlers-Danlos syndrome. The manifestations of this variant include loose-jointedness and a skin that is fragile, prone to bruising and which heals with "cigarette-paper scars". A premature rupture of fetal membranes seems to cause most affected persons to be born prematurely. Individuals are prone to rupture large blood vessels and the bowel. They also develop hiatus hernia and diverticula of the bowel [diverticulum - colon] or bladder [diverticulum - bladder]. Retinal detachment has been reported. Ehlers-Danlos syndrome type I is allelic with Ehlers-Danlos syndrome type II. Mutations in COL5A1, COL5A2 or COL1A1 cause some cases of this type of Ehlers-Danlos syndrome.