Cat eye syndrome
Cat eye syndrome (pronounced: /kæt aɪ sɪnˈdroʊm/) is a rare chromosomal disorder that affects many parts of the body. The name "cat eye" was coined due to the peculiar coloboma that can affect the iris of the eye, making it appear similar to a cat's eye. The syndrome is also known as Schmid-Fraccaro syndrome, named after the scientists who first described the condition.
Etymology
The term "cat eye syndrome" is derived from the distinctive coloboma that can affect the iris of the eye, making it appear similar to a cat's eye. The term "Schmid-Fraccaro syndrome" is named after the scientists who first described the condition.
Symptoms
The symptoms of cat eye syndrome can vary greatly from one person to another. Some common symptoms include coloboma of the iris, preauricular pits or tags, anal atresia, and kidney abnormalities. Other symptoms can include heart defects, skeletal abnormalities, and intellectual disability.
Causes
Cat eye syndrome is caused by a specific chromosomal change, specifically a duplication of genetic material on chromosome 22. This duplication occurs as a random event during the formation of reproductive cells or in early fetal development.
Diagnosis
Diagnosis of cat eye syndrome is typically made based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests can include genetic testing, ultrasound, and magnetic resonance imaging (MRI).
Treatment
Treatment for cat eye syndrome is symptomatic and supportive. This can include surgery to correct physical abnormalities, physical therapy, occupational therapy, and speech therapy.
See also
- Chromosomal disorder
- Coloboma
- Preauricular pits
- Anal atresia
- Kidney abnormalities
- Heart defects
- Skeletal abnormalities
- Intellectual disability
- Genetic testing
- Ultrasound
- Magnetic resonance imaging
- Physical therapy
- Occupational therapy
- Speech therapy
External links
- Medical encyclopedia article on Cat eye syndrome
- Wikipedia's article - Cat eye syndrome
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