- Main symptoms
- Skull and face
- Heart and lungs
- Genitals and urinary tract
- Skeleton
- Why the syndrome happens
- How the treatment is done
Tetra-amelia syndrome is a very rare genetic disease that causes the baby to be born without arms and legs, and may also cause other malformations in the skeleton, face, head, heart, lungs, nervous system or in the genital region.
This genetic alteration can still be diagnosed during pregnancy and, therefore, depending on the severity of the malformations identified, the obstetrician may recommend performing an abortion, as many of these malformations can be life-threatening after birth.
Although there is no cure, there are some cases in which the baby is born only with the absence of four limbs or with mild malformations and, in such cases, it may be possible to maintain an adequate quality of life.
Main symptoms
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:
Skull and face
- Cataracts; Eyes too small; Ears too low or absent; Nose too protruding or absent; Cleft palate or cleft lip.
Heart and lungs
- Decreased lung size; Diaphragm changes; Non-separated cardiac ventricles; Decreased one side of the heart.
Genitals and urinary tract
- Absence of a kidney; Poorly developed ovaries; Absence of anus, urethra or vagina; Presence of an orifice under the penis; Poorly developed genitals.
Skeleton
- Absence of vertebrae; Small or absent hip bones; Absence of ribs.
In each case, the malformations presented are different and, therefore, the average life expectancy and the risk to life vary from one baby to another.
However, affected people within the same family usually have very similar malformations.
Why the syndrome happens
There is still no specific cause for all cases of Tetra-amelia syndrome, however, there are many cases in which the disease occurs due to a mutation in the WNT3 gene.
The WNT3 gene is responsible for producing an important protein for the development of the limbs and other body systems during pregnancy. Thus, if a change occurs in this gene, the protein is not produced, resulting in the absence of arms and legs, as well as other malformations related to the lack of development.
How the treatment is done
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 impede 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 are usually used, moved through movements of the head, mouth or tongue, for example.
In almost all cases, the help of other people is necessary to carry out daily activities of life, but some difficulties and obstacles can be overcome with occupational therapy sessions, and there are even people with the syndrome who can move on their own without the use of Wheelchair.
