Cri du chat Syndrome: Symptoms, Cause and Treatment

What is Cri du chat Syndrome?

Cri du chat Syndrome is a uncommon and unusual hereditary disorder which is caused by a deletion of chromosome 5p. Chromosome 5p deletion syndrome; 5p minus syndrome, Cat cry syndrome, these are some of the alternate name of Cri du chat Syndrome.

Causes of Cri du chat Syndrome

• It is mostly occur due to deletion of chromosome 5p.
• Deletion of gene known as tert may cause to the feature of Cri du chat Syndrome.
• Cause of deletion of chromosome 5p is not known but various cases are because of sudden loss of chromosome 5p at the time of expansion of an egg or sperm.
• Some cases occur due to translocation i.e. parents carrying reorganization of chromosome.
• Severe mental retardation may also cause to this disease but it is in very rare cases.

Symptoms of Cri du chat Syndrome

Children with Cri du chat do not develop perfectly and even they don't get developed larynx because of which when they cry it sounds like cat cry therefore it is also called Cat cry syndrome.

Babies who have Cri du chat carry different features like they have small head and round face, wide-set eyes, downward slant to the eyes and skin tags just in front of the ear. These people do not get perfect birth weight and get slow growth.

Some children experience heart defects, hearing and visual problem, and they always face problem in walking and talking. Some people have mental retardation. These patient experience fusing of fingers or toes, small jaws and slow development of motor skills. Patient of Cri du chat Syndrome may not survive till adulthood.

Treatment of Cri du chat Syndrome

• Care must be taken , it is very helpful. No treatment survive for fundamental hereditary disorder.
• Surgery may be needed for heart defects.
• The child with this disease may need gastrostomy tube for feeding.
• Speech therapist should use to improve communication skills
• Physical therapy is also useful.
• Minor malformations also requires surgical treatment.
• Anesthetic plan is important for the symptoms like Mental retardation, temperature maintenance.

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