CAT EYE SYNDROME

CAT EYE SYNDROME is a chromosome abnormality that affects many different parts of the body.
The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal
region, heart and/or kidney. In people affected by cat eye syndrome, each cell has at least one small extra
(duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads
to the characteristic signs and symptoms of the condition. Most cases of cat eye syndrome occur
sporadically in people with no family history of the condition. Treatment is symptomatic.

The signs and symptoms of cat eye syndrome vary, but may include:
 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

CAUSE
Cat eye syndrome is most often caused by a chromosome abnormality called an inverted duplicated 22.
In people with this condition, each cell has at least one small extra (duplicate) chromosome made up of
genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and
symptoms of cat eye syndrome.

INHERITANCE
Most cases of cat eye syndrome are not inherited. The condition generally occurs sporadically as a
random event during the formation of the egg or sperm. In this case, a person would have no family history
of the condition but could pass it on to children. Rarely, cat eye syndrome is passed down from parent to
child. Some of these cases are the result of a balanced translocation in one of the parents. Carriers of a
balanced translocation generally do not have any unusual symptoms or health problems; however, they have
an increased risk of having children with a chromosome abnormality. In other cases, the parent may have a
small extra (duplicate) chromosome made up of genetic material from chromosome 22 in some (mosaicism)
or all of their cells. Because the symptoms and severity can vary between family members, the parent may
not have any obvious symptoms or may only be mildly affected.
Between family members, the parent may not have any obvious symptoms or may only be mildly affected.
 DIAGNOSIS
A diagnosis of cat eye syndrome is often suspected based on the presence of characteristic signs and
symptoms. Genetic testing can then be ordered to confirm the diagnosis. This testing may include:
Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes.
FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome.
During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent
molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. In
some cases, cat eye syndrome can be diagnosed before birth. If suspicious features are observed on prenatal
ultrasound, follow up testing such as an amniocentesis or chorionic villus sampling may be ordered to
further investigate a diagnosis.

TREATMENT
Because cat eye syndrome affects many different systems of the body, medical management is often
provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based
on the signs and symptoms present in each person. For example, congenital heart defects; anal atresia; cleft
lip and/or palate; and certain skeletal abnormalities may require surgery. Children with delayed motor
milestones (i.e. walking) may be referred for physical therapy or occupational therapy. Special education
services are often necessary for children with intellectual disability.

Prepared by:
Rayhan D. Faisal
Hadji ali, Nor-amin
Radia, Tashneema