Understanding Fibrodysplasia Ossificans Progressiva: The Rarest Human Genetic Disorder

Learn about Fibrodysplasia Ossificans Progressiva, one of the rarest genetic disorders, and its impact on human health.

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Fibrodysplasia ossificans progressiva (FOP) is one of the rarest human genetic conditions. This disorder causes soft tissues to gradually turn into bone, restricting movement and leading to severe disability. With a prevalence of about 1 in 2 million, FOP is extremely rare and often misdiagnosed in its early stages.

FAQs & Answers

  1. What are the symptoms of Fibrodysplasia ossificans progressiva? Symptoms include gradual conversion of soft tissues into bone, restricted movement, and severe disability.
  2. How common is Fibrodysplasia ossificans progressiva? FOP is extremely rare, with a prevalence of about 1 in 2 million people.
  3. How is Fibrodysplasia ossificans progressiva diagnosed? Diagnosis often involves genetic testing and may be misdiagnosed in its early stages due to its rarity.
  4. What causes Fibrodysplasia ossificans progressiva? FOP is caused by a mutation in the ACVR1 gene, which affects the regulation of bone formation.

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