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Cri du chat syndrome: Treatment, symptoms, advice and help

About cri du chat syndrome

Cri du chat syndrome also called ‘chromosome 5p deletion syndrome’ is a seldom seen genetic disorder. It is a complex syndrome characterised by stunted growth and physical malformations which are its predominant clinical features.

Cri du chat syndrome: Incidence, age and sex

Cri du chat syndrome is an extremely rare disorder which is present at birth. It is more common in females as compared with males.

Signs and symptoms of cri du chat syndrome: Diagnosis

The name ‘cri du chat’ literally comes from the French words which mean ‘Cat Cry’, typical of the sounds emitted by the affected child, which are like that of a cat. This results from hampered growth of the larynx which is also called the ‘voice box’. The affected child shows numerous delays in milestones including stunted physical growth. The physical abnormalities are typical and constitute low set ears with skin tags in front of them, small head with round face and wide set eyes with downward slant. Affected individuals may also exhibit impairment of speech and motor skills. In occasional individuals, intellectual disability may be encountered.

Some disorders may be associated with cri du chat syndrome, which include eye problems, inguinal hernia and heart defects like ventricular septal defect (VSD) or atrial septal defect (ASD). The physical examination may exhibit poor tone of muscles along with characteristic physical malformations. Genetic testing may be done to establish such a diagnosis.

Causes and prevention of cri du chat syndrome

Cri du chat syndrome is a disorder resulting from deletion of a part of chromosome, called TERT which is responsible for cell growth. This is a chromosomal disorder and not an inherited disorder. The process of deletion of chromosome is an accidental occurrence which may occur during development of the sperm or the egg.

Cri du chat syndrome: Complications

This syndrome has serious personal and social implications. The individual may not be able to take self care which may result in frequent infections and rapid deterioration of health. The survival rate is low and usually the affected individual suffers from various disorders which may finally result in death.

Cri du chat syndrome: Treatment

Unfortunately cri du chat syndrome has no cure. Multidimensional approach may be required to manage various problems of this complex syndrome. Speech therapist helps in improvement of speech. Occupational therapist may be needed to make the person independent in life. Excellent supportive care is an essential part of management of the affected individuals. It is advisable to consult an eye specialist if any impairment of vision is noted. The heart defects need to be evaluated and surgical management considered, if needed.