Cri Du Chat Syndrome

Definition and Who Found it

Cri du chat syndrome is a rare chromosomal abnormality. This disorder is widely known for the cat like cry an infant with the disease makes. Jerome Lejeune discovered this disease. He named it Cri du Chat because of the cry the infants make. In French, it means "cry of the cat".
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Symptoms

Symptoms of patients include facial deformations, wide eyes and other things, learning disabilities, and the distinctive cry that infants make.

Causes

You can contract this disease when part of chromosome 5 is deleted. This changes them and gives them all the symptoms.
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Treatments

Physical therapy is used to help people with it act better with the abnormalities that they have. There are also speech therapists and learning aids that help them through school and to communicate better.

Diagnosis

Tests are ran to see if you have it like speech tests, looking at pedigrees, and observing the baby for any of the symptoms.
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