Patau Syndrome is a rare genetic disease that causes malformations in the nervous system, heart defects and a crack in the baby's lip and roof of the mouth, and can be discovered even during pregnancy, through diagnostic tests such as amniocentesis and ultrasound.
Usually, babies with this disease survive less than 3 days on average, but there are cases of survival up to 10 years of age, depending on the severity of the syndrome.
Characteristics of Patau Syndrome
The most common characteristics of children with Patau Syndrome are:
- Severe malformations in the central nervous system; Severe mental retardation; Congenital heart defects; In the case of boys, the testicles may not descend from the abdominal cavity to the scrotum; In the case of girls, changes in the uterus and ovaries may occur; Polycystic kidneys; Slit lip and palate; malformation of the hands; defects in the formation of the eyes or absence of them.
In addition, some babies may also have low birth weight and a sixth finger on their hands or feet. This syndrome affects most babies with mothers who became pregnant after 35 years of age.
How the treatment is done
There is no specific treatment for Patau syndrome. As this syndrome causes such serious health problems, the treatment consists of relieving the discomfort and facilitating the baby's feeding, and if it survives, the following care is based on the symptoms that appear.
Surgery can also be used to repair heart defects or cracks in the lips and roof of the mouth and to do physical therapy, occupational therapy and speech therapy sessions, which can help the development of surviving children.
Possible causes
Patau's syndrome happens when an error occurs during cell division that results in a triplication of chromosome 13, which affects the baby's development while still in the mother's womb.
This error in chromosome division can be associated with the mother's advanced age, as the probability of trisomies occurring is much greater in women who become pregnant after 35 years of age.
