E-D syndrome

Question 1

define + s/s

Answer 1

Ehler-Danlos syndrome

Ehler-Danlos syndrome is an autosomal dominant connective tissue disorder that mostly affects type III collagen. This results in the tissue being more elastic than normal leading to joint hypermobility and increased elasticity of the skin.

Features and complications

• elastic, fragile skin
• joint hypermobility: recurrent joint dislocation
• easy bruising
• aortic regurgitation, mitral valve prolapse and aortic dissection
• subarachnoid haemorrhage
• angioid retinal streaks