Cri Du Chat Syndrome

Cri Du Chat Syndrome

Introduction

Learn.genetics.utah.edu

This site provided me with a brief overview of the disease and the history of the disease. This site was immensely helpful as it helped to understand the prevalence of the disease among the children, and it also provided me with the overall characteristics of the disease. After briefly analyzing the information present on the site I also found some of the most relevant information regarding the disease and the factors that play a main role in the development of the disease. Along, with that the site also gave me some really essential information regarding the number of children's that get affected by this syndrome every year (Learn.Gentics).

Cri du Chat (Cat's Meow) was first described in 1963 by Dr. Jerome Lejeune. It is estimated to have a prevalence of 1 case per 20,000 to 50,000 births. Mainly affects girls and has been reported in all racial groups. The origin of the syndrome is set in a partial deletion of the short arm of chromosome 5 (Chromosome 5 Syndrome, Monosomy 5p). This would be a structural chromosomal abnormality characterized by the loss of the genetic material (deletion). In a majority of cases this structural defect has occurred accidentally during the development of sperm or an ovum at the time of conception, without precise knowledge of the processes involved. The remaining cases are because they have inherited from their parents. The genotype-phenotype correlation in affected is relevant to establish a prognosis and appropriate management mainly in regard to mental retardation and the development of the syndrome (Radmer et.al, 1993).

The cri du chat syndrome is often a result of low birth weight. Infants with cri du chat syndrome can have a high 'feline' crying sound. Children's suffering from cri du chart syndrome often experience nutritional problems. There head is small, with a narrow jaw, low set ears and eyes wider apart than usual. Sometimes there is a heart condition present or the fingers or toes partly fused. The muscles in the first months of life limp. This can turn into an excessive muscle tension. Later on it creates a gap in learning and move to the intellectual development. Also, the growth is slower.

Discussion

Healthofchildren.com

This site provided me further information regarding the syndrome. Along, with I also found some relevant information on this site regarding some of the causes of the syndrome, and the changes that occur in the physical and mental structure of the child suffering from the disease. After briefly analyzing this site I found at that this disease is genetical and a child could be suffering from this disease even before the birth, and in some cases this disease could also rise due to the problem of heredity (Encyclopaedia of children's health).

Causes of Cri du Chat syndrome

The Cri du chat syndrome is a rare congenital disorder with chromosomal abnormality caused by a type of structural deletion of the short arm of chromosome 5 characterized by a cry resembling the mewing of a ...