What is Patau Syndrome, a genetic disease that reduces life expectancy to less than a year

IN genetics plays a major role in the functioning of almost all processes that take place in our body. It is therefore not surprising that changes in it can have important consequences for our health.

What is it and what causes it?

One such change is Patau syndrome or trisomy 13. According to the United States National Medical Library, this is a congenital genetic defect in which a person has three copies of chromosome 13 (in all or some cells) instead of the normal two copies.

Affects approximately one in 10,000 children. Contrary to popular belief, in most cases it is not inherited from parents of children, but genetic events that lead to trisomy 13 occur in the sperm or egg.

What are your symptoms?

The symptoms of Patau syndrome are varied and affecting almost all body systems. For example, they may include:

  • Rabbit lip.
  • Cleft palate.
  • Hands clasped (outer fingers above inner).
  • Eyes are very close to each other, even merging into one.
  • Decreased muscle tone.
  • Presence of additional fingers or toes.
  • Presence of hernias (umbilical, inguinal …)
  • Hole, split or slit in the iris of the eye.
  • Low set ears.
  • Severe intellectual disability.
  • Lack of skin on the scalp.
  • seizures
  • Single palm fold.
  • Skeletal anomalies.
  • Small eyes.
  • Microcephaly.
  • Small lower jaw.
  • Undown testicles (cryptorchidism).

How is it treated?

There is no specific treatment for Patau syndrome, so the focus will be on deal with specific symptoms show to each child. To do this, in addition to actual medical care for the patient, it may be necessary to provide help and training to the rest of the family.

some frequent complicationswhich usually begin soon after birth include shortness of breath, deafness, eating problems, heart failure, seizures and vision problems.

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As with other rare diseases, family members are often advised to contact family associations of patients with this specific condition or rare diseases in general. These groups can provide great support, both psychological and informational.

After all, with everything children with trisomy 13 have a very poor prognosis: 90% of them die before their first year of life.

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