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https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome

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More than 100 cases have been described in the medical literature, including apparently sporadic and familial cases.

Approximately one in 50,000 to one in 150,000 individuals in Northeastern Switzerland. Because some affected individuals develop few associated features, however, the disorder may in some people remain unrecognized. There is currently no way to estimate how underdiagnosed this syndrome is.

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This extra genetic material leads to the characteristic signs and symptoms of the condition. Most cases of cat eye syndrome occur in people with no family history of the condition.

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In people affected by cat eye syndrome, each cell has at least one small extra (duplicate) chromosome called chromosome 22.

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Congenital heart defects = surgery
Anal Atresia = surgery
cleft lip and or palate . Delayed motor =physical therapy or occupational therapy.
Special education services are used for children with intellectual disability.

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When a chromosome is abnormal and affects many different parts of the body.
Usually abnormalities occur
Â eyes
ears
anal region
heart
kidney.

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Iris coloboma

Anal atresia (opening to the anus is missing)

Skin tags or pits in front of the ears

Unusually shaped ears

Conductive hearing loss

Hypertelorism (widely spaced eyes)

Downward slanting palpebral fissures (outside corners of the eyes point downward)

Strabismus

Cleft lip and/or palate

Congenital heart defects

Urinary tract problems

Skeletal abnormalities

Developmental delay

Mild to moderate intellectual disability