Cat eye syndrome is a rare genetic disorder that affects the eyes, heart, kidneys, and other organs. It is caused by a deletion of genetic material on chromosome 22. The most common symptom of cat eye syndrome is an unusual eye appearance, which is characterized by a vertical pupil and a coloboma, or a notch in the iris. Cat eye syndrome can also cause other problems, such as heart defects, kidney problems, and developmental delays.
Cat eye syndrome is also known by several other names, including:
Other Names for Cat Eye Syndrome
The disorder can also be called:
- Chromosome 22q11.2 deletion syndrome
- Partial trisomy 22q11
- Proximal 22q deletion syndrome
- Schmid-Fraccaro syndrome
Cat eye syndrome is a rare genetic disorder that can cause a variety of symptoms, including eye abnormalities, heart defects, kidney problems, and developmental delays. The disorder is caused by a deletion of genetic material on chromosome 22. It is also known by several other names, including chromosome 22q11.2 deletion syndrome, partial trisomy 22q11, proximal 22q deletion syndrome, and Schmid-Fraccaro syndrome.
Symptoms of Cat Eye Syndrome
The symptoms of cat eye syndrome can vary from person to person. Some of the most common symptoms include:
- Eye abnormalities, such as a vertical pupil and a coloboma
- Heart defects, such as a hole in the heart or a narrowed aorta
- Kidney problems, such as kidney cysts or kidney failure
- Developmental delays, such as speech delays or motor delays
- Other problems, such as hearing loss, feeding difficulties, or seizures
The symptoms of cat eye syndrome can be mild or severe. Some people with the disorder may only have a few mild symptoms, while others may have severe symptoms that require medical treatment.
Treatment for Cat Eye Syndrome
There is no cure for cat eye syndrome, but treatment can help to manage the symptoms of the disorder. Treatment may include:
- Surgery to correct heart defects
- Medication to treat kidney problems
- Therapy to help with developmental delays
- Other treatments to manage the symptoms of the disorder
The prognosis for people with cat eye syndrome varies. Some people with the disorder live full and healthy lives, while others may have severe symptoms that require lifelong medical care. Early diagnosis and treatment can help to improve the prognosis for people with cat eye syndrome.
Conclusion
Cat eye syndrome is a rare genetic disorder that can cause a variety of symptoms, including eye abnormalities, heart defects, kidney problems, and developmental delays. The disorder is caused by a deletion of genetic material on chromosome 22. It is also known by several other names, including chromosome 22q11.2 deletion syndrome, partial trisomy 22q11, proximal 22q deletion syndrome, and Schmid-Fraccaro syndrome.
There is no cure for cat eye syndrome, but treatment can help to manage the symptoms of the disorder. The prognosis for people with the disorder varies. Some people with the disorder live full and healthy lives, while others may have severe symptoms that require lifelong medical care. Early diagnosis and treatment can help to improve the prognosis for people with the disorder.