Posted on June 9, 2009 in Latest News
Cat eye syndrome is a rare genetic condition that could be congenital (present at birth). The condition could arise because of abnormality in the 22nd chromosomal pair. Normally, the 22nd pair of chromosome contains a pair of short arms (22p) and a pair of long arms (22q). However, in individuals having cat eye syndrome, there is tripling or quadrupling of parts of the 22nd chromosomal pair.
Cat eye syndrome is also known as:
- Chromosome 22 partial tetrasomy
- Chromosome 22 partial trisomy
- Chromosome 22 inverted duplication
- Schmid-Fraccaro syndrome
Cat Eye Syndrome Symptoms
While some individuals may display mild symptoms that could be hardly visible, others may display severe malfunctions.
Some of the common symptoms of cat eye syndrome are:
- Wide-spaced eyes
- Mental retardation (mild)
- Emotional retardation
- Abnormal outgrowth of skin or depressions in the outer ear
- Downslanting eyelid folds
- Absence of tissues from iris in one eye or both eyes
- Anal atresia
Some additional cat eye symptoms are:
- Cleft palate
- Congenital heart defect
- Short stature
- Urinary tract defect
Diagnosis of Cat Eye Syndrome
Genetic testing can confirm the presence of specific type of chromosomal abnormality in the 22nd pair.
Cat Eye Syndrome Treatment
Surgery could be recommended for children born with anal atresia or congenital heart defect. Those having short stature may have to undergo growth hormone therapy to treat deficiency of growth hormone.
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