Richieri-Costa Pereira syndrome is an extremely rare disease that arises due to genetic changes on chromosome 17 in some babies, leading to the development of abnormalities in the face and larynx, as well as deformities in the feet and hands.
This disease was first identified in Brazil in 1992, at a USP Hospital, and to date only 20 children with this type of genetic mutation have yet been identified.
Although most malformations of this syndrome are not curable, there are some forms of treatment that help to reduce their impact on the child's health, improving their quality of life.
Main symptoms and characteristics
The most typical feature of this disease is the malformation of the jaw, which, instead of being just a bone, is divided into two that do not come together, forming a crack in the lower region of the mouth.
However, other features may also arise, such as:
- Height less than normal; Lack of central lower teeth; Hands poorly developed; Bent or smaller fingers than normal; Mouth too small; Clubfoot; Ears drooping.
Due to these changes, most children have difficulty breathing, eating and even communicating, in addition to having a greater tendency to develop infections in the ears, larynx or mouth, for example.
What causes the syndrome
Richieri-Costa Pereira syndrome is caused by changes in the DNA of chromosome 17 and, although the factors that lead to the appearance of these changes are not yet known, the researchers were able to identify that about 17 of the 20 affected children appear to have families derived from the same descendant.
Thus, this seems to be a disease related especially to people linked to that family, by some degree of kinship, even if very distant.
How the treatment is done
The main form of treatment used in this disease is the use of surgery to try to correct the malformations caused by the disease and allow the child to grow and develop with less obstacles.
In some cases, the child may also need to have surgeries to put in temporary options while the malformations cannot yet be treated, such as a tracheostomy for better breathing or the introduction of a tube directly into the stomach, to facilitate feeding, for example.
In addition, it is also recommended to do physiotherapy and occupational therapy sessions to speed up recovery after each surgery and help the child adapt to their limitations, in order to be as independent as possible in their daily activities.
