Cat Eye Syndrome (CES) is a rare genetic disorder caused by a chromosomal abnormality. It is characterized by a variety of physical and developmental abnormalities, including an extra (third) eye-like structure on the side of the head, a wide-set eyes, and a cleft lip or palate. Other features may include heart defects, kidney abnormalities, and mental retardation.

The most common symptoms of Cat Eye Syndrome include:

-Abnormal eye shape (coloboma)
-Abnormalities of the iris
-Cleft lip and/or palate
-Heart defects
-Kidney abnormalities
-Hearing loss
-Developmental delays
-Growth delays
-Cognitive delays
-Behavioral issues
-Seizures
-Cleft hand and/or foot
-Abnormalities of the genitalia
-Abnormalities of the urinary tract
-Abnormalities of the skeleton

Cat Eye Syndrome is caused by a chromosomal abnormality known as an inverted duplication of chromosome 22. This abnormality occurs when a portion of chromosome 22 is inverted and then duplicated, resulting in an extra copy of the inverted segment. This extra copy of the inverted segment can cause a variety of physical and developmental abnormalities.

The treatments for Cat Eye Syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and any associated medical conditions. This may include physical therapy, occupational therapy, speech therapy, and/or medications. Surgery may be recommended in some cases to correct physical abnormalities. Genetic counseling may also be recommended to help families understand the condition and its implications.

The primary risk factor for Cat Eye Syndrome is having a parent who carries a chromosomal rearrangement known as an inverted duplication of chromosome 22. This rearrangement is usually inherited from a parent, although it can also occur spontaneously. Other risk factors include advanced maternal age, a family history of chromosomal rearrangements, and a history of miscarriages or stillbirths.

There is no cure for Cat Eye Syndrome, but there are medications that can help manage the symptoms. These medications include anticonvulsants, antipsychotics, and stimulants. Additionally, physical and occupational therapy can help improve motor skills and coordination.