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Disease or Condition — Birth Defects:
Alstroem syndrome

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Alstrom syndrome is a rare genetic disorder that is characterized by a combination of symptoms, including obesity, diabetes, hearing loss, vision problems, heart defects, and kidney and liver dysfunction. It is caused by mutations in the ALMS1 gene, which is responsible for the production of a protein that helps regulate the metabolism of fats and carbohydrates. People with Alstrom syndrome typically have a shortened lifespan and may require lifelong medical care. Treatment focuses on managing the individual symptoms and complications of the disorder.

  • ALMS
  • ALSS
  • Alstrom syndrome

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