Tetramelie syndrome is a very rare genetic disease that causes the baby to be born without arms or legs and can also cause other malformations of the skeleton, face, head, heart, lungs, nervous system, or genital area.
This genetic alteration can still be diagnosed during pregnancy and therefore, depending on the severity of the malformations identified, the obstetrician may recommend an abortion, as many of these malformations can endanger the baby’s life after birth.
- Although there is no cure.
- There are some cases where the baby is born only in the absence of four limbs or with mild malformations and.
- In such cases.
- It may be possible to maintain an adequate quality of life.
In addition to the absence of legs and arms, Tetra-amelia syndrome can cause many other malformations in different parts of the body such as:
In each case, the malformations that occur are different, and therefore the half-life expectancy and life risk vary from baby to baby.
However, people affected within the same family usually have very similar malformations.
There is not yet a specific cause for all cases of Tetra-amelia syndrome, however, there are many cases where the disease occurs due to a mutation in the WNT3 gene.
The WNT3 gene is responsible for the production of a protein important for the development of limbs and other body systems during pregnancy. Thus, if a change occurs in this gene, the protein does not occur, resulting in the absence of arms and legs, as well as other malformations related to lack of development.
There is no specific treatment for Tetra-amelia syndrome and, in most cases, the baby does not survive more than a few days or months after birth due to malformations that hinder its growth and development.
However, in cases where the child survives, treatment usually involves surgery to correct some of the malformations presented and improve the quality of life, for the absence of limbs special wheelchairs, displaced by head, mouth or tongue movements, are often used for example.
In almost all cases, other people’s help is needed to perform life’s daily activities, but some difficulties and obstacles can be overcome with occupational therapy sessions, and there are even people with the syndrome who can travel alone without using a wheelchair.