Cri Du Chat syndrome

syndromes Sep 24, 2020

Cri Du Chat syndrome (CDCS) is a genetic disorder due to the deletion of the arm of chromosome 5. This name of this syndrome actually means cry of the cat in French. This is a rare syndrome occurring at a range of 1:15000 to 1:50000 in live born infants. It first was observed in the year of 1963 by Dr. Lejeune, a French pediatricians and geneticist. The clinical and cytogenetic observations were first made by Lejeune which includes high pitched cat-like cry, distinct facial dysmorphism, microencephaly and severe psycho-motor and mental retardation. Later it was confirmed by another scientist Simone, the main reason behind this chromosomal aberration is the deletion ranging from 5 to 40Mb on the chromosome number 5. The patient often faces a lot of complexities since neonatal stage and through out life. Their characteristic high-pitched cat cry is due to the anomalies of the larynx which is generally smaller and narrower than normal and also a flabby, short epiglottis with lower muscular tone.

The patient throughout their lives show severe psycho-motor and mental retardation. With age they also show several conditions like cataract and myopia with most patients having a possibility of suffering from cardiac, neurological and nephrological problems. These patients can be diagnosed by looking for the typical physical characteristics and for more precise diagnosis, a high-profile test called fluorescence in situ hybridization (FISH) can help identifying the different variations for this chromosomal abnormality. Even neonatal testing can also help in early detection of the disease. Till date, there has not been any such particular treatment technique but on detection it is always suggested to start with physiotherapy and rehabilitative procedures for the child to adapt. Mortality rate decreases after first year of survival but rehabilitative procedures should be continued. There cannot be any treatment for the cerebral damage but all these measures can help the child .

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