Cat eye syndrome is a rare genetic disorder that affects the eyes, heart, kidneys, and other organs. It is caused by a deletion of a small piece of chromosome 22. Cat eye syndrome is also known by a number of other names, including:
Synonyms of Cat Eye Syndrome
Cat eye syndrome is also known by a number of other names, including:
- Coloboma
- Microphthalmia
- Anophthalmia
- Rieger anomaly
- Goldenhar syndrome
- Oculoauricular syndrome
These names all refer to different aspects of the syndrome. For example, coloboma is a condition in which there is a hole in the iris or retina. Microphthalmia is a condition in which the eye is abnormally small. Anophthalmia is a condition in which the eye is missing altogether. Rieger anomaly is a condition in which the iris is abnormally shaped. Goldenhar syndrome is a condition that includes cat eye syndrome along with other birth defects, such as cleft lip and palate. Oculoauricular syndrome is a condition that includes cat eye syndrome along with other birth defects, such as hearing loss and ear malformations.
Other Terms Related to Cat Eye Syndrome
In addition to the common names listed above, there are a number of other terms that are sometimes used to refer to cat eye syndrome. These terms include:
- Trisomy 22
- Cat eye deletion syndrome
- 22q11.2 deletion syndrome
- Phelan-McDermid syndrome
- DiGeorge syndrome
These terms all refer to the genetic cause of cat eye syndrome. Trisomy 22 is a condition in which there are three copies of chromosome 22 instead of the usual two. Cat eye deletion syndrome is a condition in which a small piece of chromosome 22 is deleted. 22q11.2 deletion syndrome is a condition in which a specific region of chromosome 22 is deleted. Phelan-McDermid syndrome is a condition that is caused by a deletion of a specific gene on chromosome 22. DiGeorge syndrome is a condition that is caused by a deletion of a specific region of chromosome 22.
Conclusion
Cat eye syndrome is a rare genetic disorder that affects the eyes, heart, kidneys, and other organs. It is caused by a deletion of a small piece of chromosome 22. Cat eye syndrome is also known by a number of other names. These names all refer to different aspects of the syndrome or to the genetic cause of the syndrome.
If you are concerned that your child may have cat eye syndrome, it is important to see a doctor for a diagnosis. Early diagnosis and treatment can help to improve the outcome for children with cat eye syndrome.