Cri du chat syndrome is a condition that arises as a result of removal or deletion of some genetic material on the short arm of chromosome 5. The syndrome is named after the cat-like cry that infants who have the condition produce since the condition affects the larynx (the body organ that is responsible for voice production) (Fundukian, 2010). This paper pays high attention to the etiology, non-oral clinical features, oral manifestations, treatment and prognosis of cri du chat syndrome.
Cri-du-chat syndrome arises due to a chromosomal abnormality which is caused by deletion of some genetic material. Normal individuals have 46 chromosomes, and each contains numerous genes which are responsible for the regulation of body functions and development (U.S National Library of Medicine, 2014). During reproduction, these chromosomes constrict at the centromere, dividing the chromosomes into long and short arms. The syndrome arises after genes in the short arm of chromosome 5 are erased, and this deletion means that the functions that the deleted genes are responsible for conducting would not occur. However, the deletion of these genes is rarely inheritable that means most the deletion occurs by chance. In this case, the genes that are deleted are responsible for the proper development and functioning of pharynx, brain and other body organs (Fundukian, 2010).
The affected infants develop mental retardation due to the alteration of brain functionality and development. Apparently, the degree of mental retardation varies between the affected infants. The affected infants also have abnormal growth, small size of the head (microcephaly) and other facial features and poor muscle tone (hypotonia). In addition, thirty percent of affected infants develop congenital heart defects (Rodriguez, 2012). The pharynx is affected which results to the production of an abnormal cat-like cry among newborn infants. However, as these infants grow, this abnormal cry becomes unnoticed, and this makes difficult for the affected victims to be easily diagnosed.
The infected patients have excessive dental erosions that are elevated by gastroesophageal reflux. Moreover, the patients have biting problems especially open bites in the front teeth region. The biting problems constantly make infants have difficulties in masticating, sucking and swallowing of both food and breast milk, which in the long run results to poor body weight and development. The sucking problem of infants is much elevated if the general health of the latter has been affected by other diseases that are associated with the syndrome such as heart defects. Patients also have low muscle tone and poor oral motor skills, together with snoring and drooling which are also very common (Rodriguez, 2012).
There are no treatment options that are available for cri du chat syndrome. However, various management options are available in order to control the complications of the condition, and to prevent its future occurrence to the subsequent children. For example, parents with infants with the syndrome should seek genetic testing and counseling sessions in health facilities in order to establish whether either of the parent has abnormal alterations in chromosome 5 (U.S National Library of Medicine, 2014). Moreover, corrective surgeries are employed in order to control complications such as congenital heart defects.
Patients with the syndrome have 10% mortality rate during infancy due to the numerous complications that are associated with it. In addition, the probably of disability such as mental retardation, hypotonia and feeding difficulties are common in affected patients. However, when these complications are controlled, the affected individuals have a chance of living almost a normal life span (Fundukian, 2010).
It is, therefore, evident that cri-du-chat syndrome is a serious chromosomal condition that requires proper management options such as genetic counseling in order to prolong the life span of affected individuals.
Fundukian L., J., (2010). The Gale Encyclopedia of Genetic Disorders 3ED, Cengage Learning.
Rodriguez Caballero, Á., Torres Lagares, D., Yáñez-Vico, R., Gutiérrez-Pérez, J., &Machuca-Portillo, G. (2012). Assessment of orofacial characteristics and oral pathology associated with cri-du-chat syndrome. Oral Diseases, 18(2), 191-197. doi:10.1111/j.1601-0825.2011.01864.x
U.S National Library of Medicine, (2014). Cri-du-chat syndrome. Retrievedd on 24th September 2014, on ghr.nlm.nih.gov/condition/cri-du-chat-syndrome.