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What is the Marfan syndrome?

What is the Marfan syndrome?

Marfan syndrome is a pathology with autosomal dominant inheritance and classified as a rare disease. This disorder begins in childhood and affects the fibers that support organs and other structures in the body.

The cause of this syndrome is a mutation in the FBN1 gene located on chromosome 15. Due to dominant inheritance, there is a 50% risk of transmitting the disease to offspring.

The most common symptoms in Marfan Syndrome are the following:

  • Myopia.
  • Retinal detachment.
  • Cardiovascular disorders.
  • Excessively long arms, legs and fingers.
  • Flat feet.
  • High palate and crowded teeth.
Imagen: marfan-syndrome

The best alternative to avoid transmission of the disease to offspring is to resort to in vitro fertilization (IVF) treatment with donor gametes. In addition, preimplantation genetic diagnosis (PGD) can also be performed.