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What is Noonan syndrome?

What is Noonan syndrome?

Noonan syndrome is a genetic pathology caused by a mutation in the hereditary chromosome 12, although it can also appear de novo. Most children born with this syndrome have alterations in the face and head.

Some of the physical manifestations of Noonan Syndrome are the following:

  • Blue or green eyes, but very clear and with wide spaces between them.
  • Low-set ears.
  • Thickened marks between the nose and mouth.
  • Small size of the lower jaw.
Imagen: nonan-syndrome-glossary

In addition, patients diagnosed with this genetic disorder show cryptorchidism, i.e. the testicles have not descended into the scrotal sac. For this reason, Noonan Syndrome can cause infertility in men and generate difficulty in achieving a pregnancy.