Ehlers Danlos

Question 1

Inheritance

Answer 1

Autosomal dominant

Question 2

Disorder of which type of collagen

Answer 2

Type III Collagen

Question 3

What does the Type III collagen defect cause?

Answer 3

joint hypermobility and increased elasticity of the skin.

Question 4

Clinical features of Ehlers Danlos

Answer 4

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