It is also known as 5p chromosome suppression syndrome, but it is often referred to as Cat Meow Syndrome because the baby who suffers it, when he cries, emits a sound similar to this cat's meow.
The first time this syndrome was diagnosed was in 1964, it is a genetic defect that affects part of chromosome 5, the loss of a small segment of a chromosome of par 5 that can affect multiple genes, causes different symptoms and signs . It is one of the so-called rare diseases and currently has no cure, its cause and preventive measures are not known if they exist.
Cat Meow Syndrome affects one in 50,000 babies, affecting mental, physical and motor development, in each person to a greater or lesser extent, depending on the amount of genetic material missing, which is believed to occur during the ovule or sperm development, although there is also a case in which one of the parents is a carrier of a rearrangement of chromosome 5 called translocation. They are characterized by low birth weight and slow growth, a very small head, widely separated eyes, a smaller than normal chin, fingers slightly joined by a membrane or ears of low implantation among other symptoms, some require physical examination To be detected.
As generally, the sooner the problem is detected the better, an early detection will allow the psychological and physical stimulation of the child to be carried out earlier and the better his quality of life will be.
The National Association of People Affected by Cat Meow Syndrome (Asimaga), provides us with a video to be disseminated and there is more knowledge of this chromosomal disease that affects about 400 Spanish children.
From Babies and more we join their requests about a greater involvement in research on this almost unknown syndrome.
