The cat cry syndrome — karyotype of the disease, causes and diagnosis, symptoms and treatment in children

Chromosomal abnormalities are not treated, and the child receives a disability status. With some diseases it can cope and lead a full life, and with others – becomes the eternal child in need around the clock care. Syndrome cry of the cat is accompanied by defects of the fifth chromosome and the external changes of the facial part of the skull.

What is the syndrome cat cry

In official medicine the characteristic disease called Lejeune syndrome, and down syndrome is characterized by the presence of the full chromosome number but structural abnormalities of chromosome 5. The cat cry syndrome is a genetic disease, which the doctors diagnosed the first day of life the newborn. Girls get sick more often, but with proper and timely treatment survive to adulthood. The usefulness of physical abilities and intellectual abilities fully excluded. Children with cri du chat syndrome are still studied by modern doctors.

The cat cry syndrome — karyotype

Photo sick children similar in appearance to cats, and their cry is fully consistent with this pet. Karyotype 46, XX specifies the analysis to conduct karyotyping, which pass the biological parents of the fetus. Disease cat’s eye can progress even in the absence of abnormalities in the karyotype. The diagnosis is not fully understood clinical methods.

The cat cry syndrome – causes

To identify the etiology of the pathological process is problematic, as social, climatic, ethnic, industrial patterns are not detected. Is the place genetic factor when the pathology of the karyotype observed in the parents. Otherwise, the alleged causes of the syndrome, cat cry associated with a deletion of the fifth chromosome, which becomes an annular shape. Background effects on the gametes and division of the zygote can be established:

  • a genetic factor;
  • the take prohibited medications during pregnancy;
  • the operation for the childbearing;
  • bad habits in life the expectant mothers;
  • detrimental effects of radiation;
  • adverse social factor;
  • the lack of pregnancy physicians.

The cat cry syndrome – signs

The patient is born with insufficient body weight and his organs and systems is not fully formed. Externally, you can notice a large skull, antimongoloid eyes. Internal symptom becomes congenital cataract, strabismus, optic nerve atrophy or myopia. In addition, the kid born with a deformity of the ears and a short neck, suffering from a decrease in reflexes, and clubfoot from the first year of life. Other symptoms of cat cry syndrome are detailed below:

  • mental retardation (imbecility);
  • Gothic sky;
  • muscle hypotonia;
  • swallowing;
  • violation of the sucking;
  • the splitting of the reed;
  • flat bridge of the nose;
  • flat feet;
  • underdevelopment of speech;
  • cleft palate;
  • neck with wing-shaped folds;
  • syndactyly of the feet;
  • idiocy;
  • cyanosis as a symptom of hypoxemia;
  • microgenia;
  • hypertelorism;
  • microcephaly;
  • epicent;
  • inspiratory stridor (noisy breathing inheritance);
  • clinodactyly (defects of the fingers);
  • monosomy.

In any case, the distinguishing feature of the patient such well-known, but extremely rare disease of the child is a Crescent-shaped face shape, specific baby crying, antimongoloid eyes. Disease cat Creek is characterized by a lack of cerebral and physical activity, and children may even shock a healthy person.

The cat cry syndrome — diagnosis

To describe in detail the diagnosis, doctors recommend a complete clinical examination, invasive and noninvasive methods. Externally, it is seen that a small patient like a cat, but the presence of Crescent-shaped face shape is not the only symptom characteristic of the disease. A detailed diagnosis of the syndrome, cat’s cry includes the following activities in a hospital:

  • the collection of history data;
  • analysis for conducting karyotyping when planning a pregnancy;
  • biochemical analysis of blood;
  • Ultrasound;
  • chorion biopsy;
  • amniocentesis;
  • non-invasive prenatal test;
  • cordocentesis.

The cat cry syndrome – treatment

If the newborn is characteristic antimongoloid eyes and Crescent-shaped face of a cat, the first thing you want to clarify the relationship between genotype and phenotype, to determine the chromosome arm (fifth). Syndrome treatment cat Creek continues throughout life, includes the following activities:

  1. Visits to psychologists, psychiatrists, speech therapists for partial recovery of language abilities of the child patient;
  2. The correction of comorbidities, e.g. heart defects congenital in nature.
  3. Massage courses, physical therapy, physical therapy for the partial restoration of physical activity of the child patient.
  4. A visit to the speech pathologist for the production and recovery of some reflexes typical of healthy people.
  5. Drug therapy on the recommendation of the attending physician. The photo kind of scares patients, they rarely live to the age of 18-30 years.

Syndrome cat cry – video

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