Journal of Down Syndrome & Chromosome Abnormalities
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Cri-Du-Chat Syndrome: Clinical Profile and Prenatal Diagnosis

Anitha Josephine^{* *}Correspondence: Anitha Josephine, Department of Human Genetics, Michigan Medicine University, Ann Arbor, United States, Tel: +44 (0)201 910 7165, Email:

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Description

Cri-du-chat (cat's cry) syndrome, also known as 5p-(5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. However many females and males are impacted. Different names for this condition incorporate cat-cry syndrome, 5P minus syndrome, and Le Jeune’s syndrome. Chromosomes are liable for our acquired attributes, for example, eye drops. The effect of this can shift starting with one infant then onto the next, yet most will have postponed improvement and some level of scholarship handicap. There is no cure, however medicines, (including speech therapy, physiotherapy, and occupational therapy) can assist the infant with arriving at their maximum potential.

Cri-Du-Chat Syndrome Symptoms is that the condition gets its name from the characteristic cry of impacted newborn infant , which is like that of a meowing kitten, because of issues with the larynx and nervous system. About 33% of infant lose the cry by age of 2 years. Different indications of Cri-Du-Chat Syndrome might include: Taking care of issues in giving trouble in gulping, mutism, low birth weight and poor growth, severe cognitive, speech, and motor disabilities, social issues such as hyperactivity, animosity, eruptions, and dull movements, strange facial features, which might change for the long haul, excessive drooling, small head (microcephaly) and jaw (micrognathism). Other normal findings include hypotonia, a round face, epicanthal folds, down-slanting palpebral fissures (eyelids), strabismus, flat nasal bridge, down-turned mouth, low-set ears, short fingers, single palmar creases, also cardiovascular imperfections (e.g., Ventricular Septal Defect (VSD), Atrial Septal Defect (ASD), Patent Ductus Arteriosus (PDA), tetralogy of Fallot). Infertility isn’t related to Cri-Du-Chat. It additionally has been seen that the individuals with the condition experience issues imparting. While levels of capability can go from a couple of words to short sentences, it is frequently suggested by clinical experts for the infant to go through a discourse of some kind or another, therapy/aid with the help of a professional.

Causes of cri-du-chat syndrome

The specific justification for the chromosome 5 deletion is obscure. Much of the time, the chromosome break occurs while the parent’s sperm or egg cell is as yet creating. This implies the infant fosters the syndrome when fertilization happens [1]. As per the Orphanet Journal of Rare Diseases, chromosome deletion comes from the father’s sperm in about 80% of cases. The syndrome is not typically inherited, though. Around 10% of cases come from an erased parent section, as per the National Human Genome Research Institute. About 90 percent are dared to be irregular changes. They might convey a kind of defect called a balanced translocation. This is an imperfection in the chromosome that doesn’t bring about the deficiency of genetic material. Be that as it may, assuming to pass the imperfect chromosome to your infant, it might end up being uneven. This outcome in the deficiency of genetic material, and can cause cri du chat syndrome [2].

Treatment for cri–du-chat syndrome

There is no treatment for Cri-Du-Chat, infant can go through treatment to work on their language and coordinated abilities. The treatment of Cri-Du-Chat Syndrome is coordinated toward the particular indications that are evident in every person. Treatment might require the organized endeavors of a group of trained professionals [3,4]. Pediatricians, orthopedists, surgeons, cardiologists, speech pathologists, neurologists, dentists, physical and occupational therapists, and other health professionals may need to systematically and comprehensively plan an affected child’s treatment.

References

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