12 August

Cat cry syndrome - causes, symptoms , treatment

cat cry syndrome is a rare genetic disorder that is triggered by a violation of the structure of the short arm of the 5th chromosome.The main symptom of this disease appears the characteristic cry, affected her children, reminding the cat's meow.This is due to congenital hypoplasia of the larynx, soft cartilage and narrowing of the epiglottis.Also, the disease known as syndrome Lejeune - on French genetics family, who in 1969 gave the first description of the disease.

cat cry syndrome Causes

believed that provoke a mutation that gives rise to a cat cry syndrome, can the various factors that have a strong impact on the parents' germ cells.You should also take into account the negative impact on the already fertilized egg during cleavage or formation of a zygote.Thus, it is possible to identify the main causes of cat cry syndrome:

  • Heredity;
  • Smoking;
  • Drugs;
  • Alcohol;
  • chemicals and medicines.

The most important cause of the cat's cry syndrome, medical supervision, is a hereditary factor.Therefore

it is very important to know that if a family member is present chromosomal disorder, at the planning stage of pregnancy is necessary to conduct genetic testing.In addition, if a child was born in a family with a cat cry syndrome, the probability that the second will also be affected by this disease is very high.

known that smoking and alcohol have a negative effect on all the body's cells.However, the most sensitive to the effects of their germ cells and the fetus during pregnancy.As for drugs, they primarily violate the genetic apparatus of cells.

In the first trimester of pregnancy, the use of strong chemicals or medicinal drugs can also cause cat cry syndrome.

Symptoms syndrome cat cry

As already noted, the main feature of the cat's cry syndrome serves typical baby crying.However, almost a third of children suffering from this disorder, losing this feature to the second year of life.In the remaining patients, this feature becomes chronic.Consider the accompanying signs syndrome:

  • small birth weight baby;
  • Profuse salivation;
  • disturbed function of sucking and swallowing due to deformation of the pharynx;
  • Reduced muscle tone throughout the body;
  • Frequent constipation;
  • heart disease;
  • Mental retardation;
  • Violation of physical development;
  • delay the development of language skills;
  • Monotonous movements;
  • Aggression and tantrums;
  • Hyperactivity.

In addition to these symptoms, can also be called the external signs that are typical for cat cry syndrome.The first is a round face with wide-set eyes.Typically, the outer corners of the eyes slightly lowered.Patients almost always flat nose bridge and wide nose, ears are fairly low, the neck is short.Also, children at this anomaly, microcephaly observed, that is, small size of the skull and the brain, which manifests itself protruding frontal mounds.Over the years, this feature is even more pronounced.

often in children with cat cry syndrome are also observed pathologies like:

  • Congenital eye diseases (such as strabismus, cataracts, optic atrophy, etc...);
  • Diseases of the cardiovascular system;
  • digestive system diseases (for example, obstruction of the gut, etc...);
  • Genitourinary diseases (such as hydronephrosis, horseshoe kidney, and others);
  • Pathology of the musculoskeletal system (eg, umbilical hernia, clinodactyly, congenital hip dislocation, clubfoot, flat feet, increased flexibility of joints, etc...);
  • Cleft lip and palate.

Such variations are optional additional symptoms of cat cry syndrome, so far developed in all patients.The severity of these diseases in different patients and different.

Typically, sexual and reproductive function in susceptible disease have severe disorders.Also puberty and menstruation in patients with girls occur in time.In rare cases, it found two-horned uterus.In boys, there is the small size of the testicles, but spermatogenesis is usually impaired slightly.

Treatment of cat cry syndrome

As noted above, genetic testing in the planning period of pregnancy is the best option if there is a chromosomal disease in any of the family members.If it is not carried out, the cri du chat can be identified in the course of the pregnancy by ultrasound.To the diagnosis was confirmed, it is also necessary to carry out invasive prenatal diagnosis.

Infants with this disorder should always be examined by a cardiologist, urologist, ophthalmologist, orthopedic and other professionals.Treatment of cat cry syndrome is aimed primarily at eliminating the associated disease symptoms and pathology, as well as to maintain the vital functions of a person suffering from this disease.This is due to the fact that this anomaly is incurable today.

According to statistics, only 10% of children with this syndrome die before the age of ten.Most often, patients die in early life, but the cause is usually not itself a genetic disease, and concomitant disease, including heart disease.That is why the treatment of cat cry syndrome often requires surgery to correct this congenital anomaly.

In addition, to correct psychomotor activity, in this case, often the doctor prescribes a course of drug treatment and psychotherapy, as well as sessions with a speech therapist and defectology.Therapeutic exercise and regular massages are also able to significantly improve the patient's condition.

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