17- CONNECTIVE TISSUE DISEASES

• Marfan's Syndrome


  Autosomal dominant disorder associated with mutation in fibrillin 1 gene on chromosome 15
• Marfan's Syndrome


  • Collagen abnormalities: fragility of the skin and bruising
  • Skeletal abnormalities: tall stature, arm span greater than height, arachnodactyly, sternal depression, hypermobile joints, high arched palate
  • Other features: upward dislocation of the lens & cardiovascular complications (Ascending aortic aneurysm formation & valve incompetence)
• Ehlers-Danlos Syndrome


  Inherited defect of collagen -> fragility and hyperelasticity of the skin
• Ehlers-Danlos Syndrome


  • Easy bruising
  • "Paper thin" scars
  • Hypermobility of the joints
  • Weak walls of the aorta and gut may rupture