Our biggest fear when we are pregnant is always that our child will suffer from a disease that does not allow him to lead a normal life. One like him cat meow syndrome, It is a rare congenital disease with common features such as intellectual disability and a cry from which it takes its name, which resembles a cat's meow.
This syndrome affects approximately one in every 20.000-50.000 births and predominates in girls. It's a very rare syndrome but we believe that it can be interesting to at least know what the causes and symptoms are. Join us!
The causes
Meowing syndrome, also known as 5p minus syndrome, was first described in 1963 by Jérôme Lejeune. And it's caused by a chromosome abnormality caused by a partial or total deletion of the short arm of chromosome 5.2.
Esa loss of genetic material of chromosome 5 implies the deletion of telomerase reverse transcriptase (TERT), a gene involved in the control of cell growth. Why happens? It is unknown, although in most cases it seems to be due to a spontaneous loss during development of an egg or sperm.
As we have already mentioned, it is a very rare disease with an estimated prevalence of approximately 1/20.000-50.000 births, slightly higher in girls. Only 10 of these cases occur because one of the parents is a carrier of a reorganization of chromosome 5 called translocation, the rest, as we have already said, is spontaneous.
Symptoms
The common characteristic of those who suffer from this cat meow syndrome is the crying babies much like a cat's meow. This is the peculiarity that makes it possible to diagnose this disease and differentiate it from other syndromes.
In addition, people with this syndrome have intellectual disability, although less than 1% of cases of severe intellectual disability are due to this syndrome. But it's not the only one repeating feature in all cases of cat meow syndrome. Common symptoms are:
- high pitched cry, similar to the meowing of a cat and whose cause must be sought in the narrowing of the larynx associated with the syndrome.
- Intellectual disability.
- weight below normal at birth.
- Microcephaly. Children have a small head.
- Slow growth and development. They remain very backward, especially in terms of their static and psychomotor skills.
In addition, there are other characteristics that are repeated in most cases and that are:
- ocular hypertelorism. An increase in the distance separating the inner walls of the right and left orbit.
- Downward-sloping palpebral fissures and epicanthal folds.
- Small jaw and downturned corners of the lips
- Low-set ears and papular growths on the auricle.
- At birth they usually present asphyxia, cyanotic attacks, inadequate sucking and hypotonia.
- Cardiac, neurological and renal malformations
- Syndactyly. Congenital or accidental fusion of two or more fingers together.
- Cryptorchidism or hidden testicles.
- scoliosis or spinal curvature.
The treatment
There is no specific treatment available for this syndrome, but there are ways to improve the lives of those who suffer from it. The early intervention programs, are key to improving their motor skills, language and communication skills, as well as to correct physical problems that could make it difficult for them to eat normally.
In general, children with cat meow syndrome are loving, affectionate and They enjoy social interaction. Their greatest difficulty is their inability to speak, although in many cases they can acquire verbal skills to communicate, early stimulation being the key in these cases.
When they reach adulthood, their lifestyle will vary depending on the motor, cognitive and autonomous abilities they have acquired and assumed. Although his Life expectancy which is short of about 50 years.
Did you know about cat meow syndrome or did you hear about it for the first time today? With such a small incidence, it is difficult to find close cases that bring us closer to this syndrome, but it exists!