Patau Syndrome – What is it, Causes and Treatments

Patau Syndrome – What it is, Causes and Treatments that people still don’t know. In addition, Patau Syndrome is a rare genetic disorder that causes malformations of the nervous system , heart defects, and cleft lip and roof of the baby’s mouth.

Babies with Patau Syndrome  survive less than 3 days on average, but there are cases of survival up to 10 years of age depending on the severity of Patau Syndrome .

Patau Syndrome can be discovered even during pregnancy, through diagnostic tests such as amniocentesis and ultrasound. It is the presence of an extra copy of chromosome 13, giving the individual 3 chromosomes 13, instead of just 2.

Causes of Patau Syndrome:  There is no way to determine specific causes for the occurrence of Patau Syndrome , but there are some associations that can be made. As most trisomies (the presence of 3 chromosomes of a specific type instead of 2) are related to the mother’s advanced age, in 40% of the cases, the pregnant woman is over 35 years old. But the risk of mutation exists in any case, even when the mother is young and there is no history of genetic diseases in the family.

Especially from the age of 40, women are more prone to non- disjunction of chromosomes , which gives rise to trisomy. In the case of Patau Syndrome , this ceases to occur during anaphase 1 of mitosis, generating gametes with 24 chromatids.

Symptoms of Patau Syndrome:  The general symptoms of Patau Syndrome are:

  • Severe malformations of the central nervous system and internal organs;
  • Marked mental retardation;
  • Congenital heart defects;
  • Defects in the urogenital rat, in boys cryptorchidism (failure of the testicle to descend into the scrotum) and in girls a bicornuate uterus (there is a membrane that divides the uterus into two sides internally) and ovaries;
  • hypoplastic (incomplete development);
  • Polycystic kidneys.

Other characteristics of children affected by Patau Syndrome are:

  • Closed fists;
  • Cleft lip and roof of the mouth ;
  • Malformed and misplaced ears;
  • Eyes small and far apart;
  • Closed fists;
  • Presence of a sixth finger on the hands or feet;
  • Low birth weight;
  • Abnormalities in breathing control;

Patients  with Patau Syndrome can also develop other diseases such as deafness, kidney disease, mental deficiency and heart problems. Therefore, the individual rarely reaches 10 years of age.

Patau Syndrome Treatment:  To date, no cure for Patau Syndrome has been discovered . There are, however, surgical interventions that can decrease the risk of death and improve some anomalies. Even in this situation, frequent medical follow-up is necessary throughout the person’s life.

It is important for parents to be aware from an early age that their child’s life expectancy is very low, because only in a small minority of cases the child reaches the first year of life.

How to Prevent Patau Syndrome:  There is no way to prevent Patau Syndrome , but it is possible to diagnose the risk of a baby being born with Patau Syndrome from the 9th week of pregnancy. The exam can also diagnose other syndromes such as Edwards and Down syndrome, as well as changes in the X and Y chromosomes.

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