Syndrome of cat's shout

The syndrome of cat's shout represents quite rare genetic disease which is provoked by disturbance of structure of a short shoulder of the 5th chromosome. The characteristic crying of the children affected with it, reminding miaow of a cat acts as the main symptom of this pathology. It is caused by inborn underdevelopment of a throat, softness of cartilages and narrowing of an epiglottis. Also this disease is known under the name Le Jeune's syndrome – by last name the French geneticist who in 1969 for the first time gave the description to this disease.

Reasons of a syndrome of cat's shout

It is considered that to provoke a mutation which leads to emergence of a syndrome of cat's shout various factors which make strong impact on sex cells of parents can. It is necessary to consider also a negative impact on already oospore during crushing or formation of a zygote. Thus, it is possible to establish the main reasons for a syndrome of cat's shout:

• Heredity;
• Smoking;
• Drugs;
• Alcohol;
• Chemicals and drugs.

The most important reason of a syndrome of cat's shout, on medical observations, is the hereditary factor. Therefore it is very important to know that if one of family members has a chromosomal disease, at a stage of planning of pregnancy it is necessary to hold genetic testing. Besides, if one child in a family was born with a syndrome of cat's shout, probability that the second will also be subject to this pathology, is very high.

It is known that smoking and alcohol exert a negative impact on all cells of an organism. However sex cells and a fruit are most sensitive to their influence during pregnancy. As for drugs, they first of all break the genetic device of cells.

In the first trimester of pregnancy use of strong chemicals or medicamentous drugs can also become the reason of a syndrome of cat's shout.

Signs of a syndrome of cat's shout

As it was already noted, characteristic crying of the child acts as the main sign of a syndrome of cat's shout. However nearly a third of the children having this pathology lose this feature by second year of life. This sign gains chronic character from other patients. Let's consider the accompanying syndrome signs:

• Small weight at the child's birth;
• Plentiful salivation;
• The broken functions of suction and swallowing in connection with deformation of a throat;
• Decrease in a muscle tone in all organism;
• Frequent locks;
• Heart diseases;
• Mental retardation;
• Disturbance of physical development;
• Arrest of development of speech skills;
• Uniform movements;
• Aggression and hysterics;
• Hyperactivity.

Except above-mentioned symptoms, it is possible to call also external signs characteristic of a syndrome of cat's shout. First of all this round face with widely put eyes. As a rule, outside corners of eyes are a little lowered. At patients almost always the flat nose bridge and a wide nose, ears are located quite low, a neck short. Besides, at the children subject to this anomaly, the nanocephalia, that is the small sizes of a skull and brain is observed that is shown by the frontal hillocks acting forward. Over the years this sign becomes clearer.

Quite often at children with a syndrome of cat's shout also such pathologies as are observed:

• Inborn eye diseases (for example, squint, cataract, atrophy of an optic nerve etc.);
• Diseases of cardiovascular system;
• Diseases of the alimentary system (for example, impassability of a gut etc.);
• Urinogenital diseases (such as hydronephrosis, podkovoobraznost of kidneys and others);
• Musculoskeletal system pathologies (for example, umbilical hernia, a clinodactyly, congenital dislocation of a hip, a clubfoot, flat-footedness, the increased flexibility of joints etc.);
• Splitting of a lip and sky.

Similar deviations are not obligatory additional symptoms of a syndrome of cat's shout therefore develop not at all patients. Degree of manifestation of these diseases at different patients is also various.

As a rule, sexual and reproductive functions at subject to a disease have no strong disturbances. Also puberty and periods at sick girls happen in time. In rare instances the two-horned uterus meets. At boys the small size of testicles is observed, however the spermatogenesis is, as a rule, broken slightly.

Treatment of a syndrome of cat's shout

As it was noted above, genetic testing during planning of pregnancy is the best option in the presence of a chromosomal disease at any of family members. If it was not carried out, then the syndrome of cat's shout can be revealed already in the course of pregnancy at ultrasonography. That the diagnosis was confirmed, it is necessary to carry out invasive prenatal diagnosis also.

Newborns with this pathology have to have surely examination at the cardiologist, the urologist, the ophthalmologist, the orthopedist and other specialists. Treatment of a syndrome of cat's shout is directed first of all to elimination of the symptoms and pathologies accompanying a disease, and also to maintenance of vital signs of the person having this disease. It is caused by the fact that today the given anomaly is incurable.

Statistically, only 10% of children with such syndrome live up to ten-year age. Most often patients die in the first years of life, however, as a rule, not the genetic disease, and the accompanying pathologies, in particular, heart disease is the reason. For this reason treatment of a syndrome of cat's shout often assumes surgical intervention for elimination of similar congenital anomaly.

Besides, for a correcting of psychomotor activity in this case quite often the doctor appoints a course of drug treatment and psychotherapy, and also occupation with the logopedist and the speech pathologist. Physiotherapy exercises and regular massage procedures are capable to improve a condition of the patient considerably too.