Short answer · Medically reviewed summary · Last updated: 2023-07-13
Cat Eye Syndrome is a rare chromosomal disorder that affects a small number of individuals worldwide. It is estimated to occur in approximately 1 in every 50,000 to 150,000 live births.
What is the prevalence of Cat Eye Syndrome?
Prevalence of Cat Eye Syndrome: how many people are affected worldwide, differences by sex and region, with sources.
Cat Eye Syndrome is a rare chromosomal disorder that affects a small number of individuals worldwide. It is estimated to occur in approximately 1 in every 50,000 to 150,000 live births. This prevalence may vary across different populations and regions.
The syndrome is characterized by a distinct set of physical and developmental abnormalities. Individuals with Cat Eye Syndrome typically have a specific eye abnormality known as coloboma, which gives the appearance of a cat's eye. Other common features include heart defects, kidney abnormalities, hearing loss, and intellectual disabilities.
Although the exact cause of Cat Eye Syndrome is not fully understood, it is typically caused by a specific chromosomal abnormality called a supernumerary bisatellited marker chromosome. This extra chromosome is formed by the duplication of genetic material from chromosome 22.
Due to its rarity, Cat Eye Syndrome often goes undiagnosed or misdiagnosed. Early detection and appropriate medical management are crucial for individuals with this syndrome to address their specific health needs and provide necessary support for their development.
