Connective Tissue Disease - Heritable Connective Tissue Disorders

Heritable Connective Tissue Disorders

  • Marfan syndrome – a genetic disease causing abnormal fibrillin.
  • Ehlers-Danlos syndrome – defect in the synthesis of collagen (Type I or III) causes progressive deterioration of collagens, with different EDS types affecting different sites in the body, such as joints, heart valves, organ walls, arterial walls
  • Osteogenesis imperfecta (brittle bone disease) – caused by insufficient production of normal collagen (primarily type I) to produce healthy, strong bones.
  • Stickler syndrome – affects collagen (primarily type II and XI), and may result in a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.

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