genetics Plays a fundamental role in the functioning of almost all processes occurring in our body. Therefore, it is no surprise that changes in it can have a significant impact on our health.
What is this and what is the reason for it?
one such change Patau syndrome or trisomy 13, According to the United States National Library of Medicine, it 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.
it affects almost one in 10,000 children, Contrary to what one might think, in most cases it is not inherited from parents to children, but the 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 affect virtually all body systems, Thus, for example, they can include:
- cleft palate.
- Closed hands (outer fingers over inner fingers).
- Eyes very close together, even merging into one.
- Decreased muscle tone.
- Presence of extra fingers or toes.
- The presence of hernias (umbilical, inguinal …)
- Hole, rupture or slit in the iris of the eye.
- Low set ears.
- severe intellectual disability.
- Absence of skin on the scalp.
- Single palmer crease.
- Skeletal abnormalities.
- small eyes.
- Small lower jaw.
- Descending testes (cryptorchidism).
How is it treated?
There is no specific treatment for Patau syndrome, so the focus will be address specific symptoms Show each child. To do this, in addition to actual medical care for the patient, it may be necessary to provide support and training to the rest of the family members.
some common complicationsThose that begin soon after birth include shortness of breath, deafness, feeding problems, heart failure, seizures, and vision problems.
Like other rare diseases, family members are often advised to contact family union Patients with this specific condition, or more commonly of rare diseases. These groups can provide a lot of support both psychologically and informationally.
still and with everything, Children with trisomy 13 have a very poor prognosis: 90% of them die before the first year of their life.