Inherited disorders of Collagen manifestations

I. Osteogenesis imperfecta

It is a rare inherited disorder of collagen (autosomal dominant), characterized by brittle bone and abnormalities of the skin, tendon, teeth and sclera.

II. Marfan syndrome

It is an inherited condition (autosomal dominant) charasterized by:-
- Span > height
- Lens dislocation
- High arched palate.

- Arachnodactly
- Sternal depression
- Mitral valve prolapse
- Aortic incompetence.
- Aortic dissecting aneurysm.

III. Ehlers - Danlos syndrome

Ten different types have been recognized
Characteristic features:
- Skin laxity.
- Short stature.
- Hypermobility of joints.
- Skin bruising.
Inherited disorders of Collagen manifestations
Dr.Tamer Mobarak


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