Ehlers Danlos Flashcards
1
Q
Inheritance
A
Autosomal dominant
2
Q
Disorder of which type of collagen
A
Type III Collagen
3
Q
What does the Type III collagen defect cause?
A
joint hypermobility and increased elasticity of the skin.
4
Q
Clinical features of Ehlers Danlos
A
elastic, fragile skin
joint hypermobility: recurrent joint dislocation
easy bruising
aortic regurgitation, mitral valve prolapse and aortic dissection
subarachnoid haemorrhage
angioid retinal streaks
5
Q
A
