About Cri du Chat Syndrome
The New York Center for Rare Diseases supports the mission and guidelines of the Genetic and Rare Diseases Information Center (GARD). The following information is provided by the NIH.
Summary
Monosomy 5p, also known as Cri du chat syndrome or Deletion 5p, 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. Monosomy 5p 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 Monosomy 5p is usually not inherited in families. Diagnosis is based on the clinical examination, symptoms and confirmed by the results of genetic testing.
Causes
What Causes This Disease?
Genetic Mutations: Monosomy 5p is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.
Chromosomal Changes: Monosomy 5p is caused by a change in the number of chromosomes a person has, or a change in their structure. Chromosomes are structures within cells that hold all our genes. People usually have 46 chromosomes, 23 come from the biological mother and 23 come from the biological father. Most of the time, chromosomal changes occur randomly in the sperm or egg, but some changes are known to be passed on from parent to child.
Given the known chromosomal changes for this disease, you may want to ask your health care team if chromosome testing is right for you. Results from chromosome testing can confirm or rule out a suspected chromosomal disease or help determine a person’s chance of passing on a disease.