Cat scream syndrome is a rare genetic disease. Its characteristic symptom is the crying of a baby, which resembles a cat meowing - hence the colloquial name of cat meowing syndrome. What are the other symptoms of cat scream syndrome? What are the causes of the disease? What is its treatment? Why does the affected child make sounds like a cat meowing?

Cat scream syndrome(Cri du Chat syndrome, Lejeune syndrome, CDS) is agenetic diseasethat is diagnosed once every 15 and, according to some sources, up to 50,000 births. As a result, cat meowing syndrome belongs to the group known as rare diseases.

Its name is associated with the most characteristic symptom of the disease, i.e. with sick children making sounds resembling a cat meowing. There are about 50 children in Poland struggling with CDS.

Cat scream syndrome - causes

The cause of the cat scream syndrome is a deletion, a spontaneous gene mutation in which some genetic material is lost in the short arm of chromosome 5. The genes encoding proteins involved in brain development are lost. Since the disease is caused by an unpredictable genetic mutation, it is not hereditary.

Cat scream syndrome - symptoms

The first symptom of the disease is a characteristic cry issued by the child from the first days of life, which with its intonation resembles a cat's meowing.

  • How to read baby's Cry?

This crying is the result of an abnormal structure of the larynx - which is small, narrow and diamond-shaped - and a slender and small epiglottis. Disturbances in the nervous system also have an influence. The crying usually subsides after a few, sometimes several months.

You can also notice a characteristic set of facial dysmorphic features, which include:

  • microcephaly (small head)
  • round, asymmetrical face
  • micrognation (small lower jaw)
  • diagonal wrinkle of the eye, i.e. a vertical skin fold covering both paranasal corners of the eye
  • frontal tumors
  • characteristic structure of the nose (flat and broad base, short back)
  • ocular hypertelorism - wide-set eyes

They also appear in the band called cat screamproblems with the digestive system - the child does not have a sufficiently developed sucking and swallowing reflex, therefore there are feeding problems, and thus - the child is gaining weight poorly or not at all. Other symptoms of the disease are severe drooling and constipation.

Over the years, intellectual disability and delayed motor development are noticeable. In most cases, patients communicate without the use of speech - by means of non-verbal communication.

Other conditions may coexist with cat scream syndrome, such as

  • heart defects
  • cleft lip and palate
  • spina bifida
  • kidney defects
  • abnormal structure of the intestine
  • clubfoot (permanent bend of the feet inwards)

It is because of these shortcomings that some of the children struggling with this rare disease die in the first years of their lives.

Cat scream syndrome - diagnosis

Cat scream syndrome is diagnosed based on the results of karyotype tests - a type of genetic test that involves analyzing chromosomes.

Cat Scream Syndrome - treatment

Cat scream syndrome is a genetic disease and therefore cannot be cured. However, it is possible to alleviate its symptoms.

The basic element of treatment is rehabilitation, thanks to which patients have a chance to live to adulthood.

Since children with cat meowing syndrome are more or less physically impaired, rehabilitation involves learning basic activities such as sitting, eating, and walking.

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About the authorMonika Majewska A journalist specializing in he alth issues, especially in the areas of medicine, he alth protection and he althy eating. Author of news, guides, interviews with experts and reports. Participant of the largest Polish National Medical Conference "Polish woman in Europe", organized by the "Journalists for He alth" Association, as well as specialist workshops and seminars for journalists organized by the Association.

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Category:

Genetic diseases