Ehlers-Danlos Syndrome

Causes

Congenital Collagen malformation

Collagen is designed to support and connect structures within the body, if improperly formed, it will be weak and impaired in its function.

Dermis embryonically derived from Somatic Mesoderm

AD/AR depending on type.

Signs

Major:

Generalised Joint Hypermobility(dislocation, subluxation), Skin Hyperextensibility(soft, doughy, velvety), Atrophic Scarring, Easy Bruising(blood vessel fragility), Club foot

Treatment

Vascular: BP control, Surgery avoidance, Care during pregnancy

Others: Pain medication.

Potential for Gene therapies in future.

Spina Bifida

Causes

'Split Spine'