Ehler Danlos syndrome is a coinnective disorder which is caused by genetic defects involving the synthesis of the Collagen which is the most abundant protein in human body
This syndrome comprises a group of heterogenous disorders which vary in their genetic mode of inheritence as well as clinically.
There are nearly 10 different varieties that comprise these syndrome.
Type VI is the most common type and is called kyphoscolitic type.There are ocular symptoms involving cornela rupture and retinal detachment.This may respond partially to ascorbic acid but there is no strong evidence to support this.
Type IV is the vascular type and may lead to easy brusing, large artery rupture, defects of colon and uterus as well as reduced life expectancy
Type IX involved defects in copper metabolism and is rare.
The three most salient features involve fragile skin, bleeding diathesis and hypermobile joints.
Tretament is mainly supportive. There is ongoing research into early identifications of patients at riks and possible genetic manipulation.
Please contact ODFINS foundation if you need any further information regarding support networks for Ehler Danlos Syndrome