What is Cat Eye Syndrome

Cat Eye Syndrome, also known as Schmid-Fraccaro Syndrome, is a rare genetic disorder characterized by a distinct set of physical and developmental abnormalities. It is caused by a chromosomal abnormality known as an inverted duplication of a specific region on chromosome 22.

The most prominent feature of Cat Eye Syndrome is the presence of coloboma, a malformation of the eye that resembles a cat's eye. This condition can affect one or both eyes and may cause visual impairment. Other common physical characteristics include low-set ears, a small jaw, a cleft palate, and heart defects.

Individuals with Cat Eye Syndrome may also experience developmental delays, intellectual disabilities, and hearing loss. The severity of symptoms can vary widely among affected individuals.

Diagnosis of Cat Eye Syndrome is typically made through genetic testing, which can identify the chromosomal abnormality. There is no cure for this syndrome, but treatment focuses on managing the associated symptoms and providing support for developmental and educational needs.

Due to its rarity, Cat Eye Syndrome affects approximately 1 in every 150,000 to 1 in every 1,000,000 live births.