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Genetic disorder


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Genetic disorder

  1. 1. FibrodysplasiaOssificans Progressiva(FOP) { By Cassie and Hannah
  2. 2. What is FOP?  FOP is a very rare genetic disorder. Around one in two million people are born with it.  FOP is the only disease that can change one organ system into another. Muscles are turned into bone.
  3. 3. What does it do?  FOP causes bone, ligaments, and tendons to ossify, or transform into bone. Joints are covered in bone, and become immobile.  It has been nicknamed “Stone Man Syndrome.”
  4. 4. What causes it?  The ACVR1 gene is used to ossify cartilage. A mutation of this gene causes FOP, where ossification is not “turned off.”  Bones will grow unregulated and replace muscles, joints, and ligaments. This greatly limits movement.
  5. 5. Signs & Symptoms  Painful lumps and malformed big toes and thumbs can be early signs of FOP  Bone growths occur usually by early childhood.  Anything from a fall, an immunization, or an illness can trigger bone growth. Occasionally, it has no trigger.
  6. 6. Treatments  There are no treatments for FOP.  Surgery makes it worse. Any bone growth removed will grow back even more, and new growths will be stimulated.
  7. 7. ComparisonsA skeleton with FOP A normal skeleton
  8. 8. Cases  When Harry Eastlack was 10, he was diagnosed with FOP.  By the time of his death at 40, his body was completely ossified, and he could only move his lips.  He donated his body to science after he died, so a cure could be found to this disease.
  9. 9. Video
  10. 10. Other Facts  It is commonly misdiagnosed as cancer.