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Rare Diseases 2023

SíTetra-amelia syndrome: symptoms, causes and treatment

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SíTetra-amelia syndrome: symptoms, causes and treatment
SíTetra-amelia syndrome: symptoms, causes and treatment
Anonim

Tetra-amelia syndrome is a very rare genetic disease that causes the baby to be born without arms and legs, and can also cause other malformations in the skeleton, face, head, heart, lungs, nervous system or in the region genital.

This genetic alteration can be diagnosed even during pregnancy and, therefore, depending on the severity of the identified malformations, the obstetrician may recommend performing an abortion, since many of these malformations can endanger the baby's life after birth. birth.

Although there is no cure, there are some cases in which the baby is born with only four limbs missing or with mild malformations and, in these cases, it may be possible to maintain an adequate quality of life.

Nick Vujicic was born with Tetra-amelia syndrome

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;
  • Very protruding or absent nose;
  • Cleft palate or cleft lip.

Heart and Lungs

  • Decrease in the size of the lungs;
  • Iris changes;
  • Unseparated heart ventricles;
  • Decrease on one side of the heart.

Genitals and urinary tract

  • Absence of a kidney;
  • Ovaries poorly developed;
  • Absence of anus, urethra or vagina;
  • Presence of hole under the penis;
  • Undeveloped genitals.

Skeleton

  • Absence of vertebrae;
  • Small or missing hip bones;
  • Absence of ribs.

In each case, the malformations presented are different and, therefore, the average life expectancy and risk to life vary from one baby to another.

However, affected people within the same family usually have very similar malformations.

Why does the syndrome happen

There is still no specific cause for all cases of Tetra-amelia syndrome, however, there are many cases in which the disease is caused by a mutation in the WNT3 gene.

The WNT3 gene is responsible for producing an important protein for the development of limbs and other body systems during pregnancy. Thus, if an alteration occurs in this gene, the protein is not produced, resulting in the absence of arms and legs, as well as other malformations related to 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 prevent its growth and development.

However, in cases where the child survives, treatment usually involves performing surgeries to correct some of the malformations presented and improve the quality of life. As for the absence of limbs, special wheelchairs are usually used, moved through head, mouth or tongue movements, for example.

In almost all cases, the help of other people is necessary to carry out activities of daily living, but some difficulties and obstacles can be overcome with occupational therapy sessions, and there are even people with the syndrome who are able to move alone without using a wheelchair.

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