About Cat-Eye 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
Cat-eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart, and/or kidney. In people affected by Cat-eye syndrome, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of the condition. Most cases of Cat-eye syndrome occur sporadically in people with no family history of the condition.
Causes
What Causes This Disease?
Genetic Mutations: Cat-eye syndrome 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: Cat-eye syndrome 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.