This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Cri du chat syndrome is present from birth and affects growth and development. Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial appearance. They may have trouble breathing and feeding difficulties. People with this condition typically have intellectual disability, developmental and speech delay, and behavioral issues. Cri du chat syndrome is due to a missing piece (deletion) of a specific part of chromosome 5 known as the ‘p’ arm. In general, the severity of the symptoms is determined by the size and location of the deletion on chromosome 5. This deletion occurs very early in the development of an embryo and cri du chat syndrome is usually not inherited in families. Diagnosis is based on the clinical examination, symptoms and confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.
For more information, visit GARD.