is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times

1. Cat eye syndrome
Presented by: AhmedYahya

2. Cat eye syndrome or Schmid–Fraccaro syndrome, is
a rare condition caused by the short arm (p) and
a small section of the long arm (q) of human
chromosome 22 being present three (trisomic) or
four times (tetrasomic) instead of the usual two
times.

3. Signs and symptoms
-Unilateral or bilateral iris coloboma (absence of
tissue from the colored part of the eyes)
-Preauricular pits/tags (small depressions/growths
of skin on the outer ears)
-Anal atresia (abnormal obstruction of the anus)
-Downward-slanting Palpebral fissures (openings
between the upper and lower eyelids)
-Kidney problems, Short stature and Cardiac
defects.
-Scoliosis/Skeletal problems.

4. The term "cat eye" syndrome was coined
because of the particular appearance of the
vertical colobomas in the eyes of some patients.
However, over half of the CES patients in the
literature do not present with this trait.

5. History
The abnormalities common to cat eye
syndrome were first cataloged in 1899.It was
described in association with a small marker
chromosome in 1965.Early reports of cat eye
syndrome discuss the possibility of
chromosome 13 involvement. Now, CES is
considered to be present with the chromosome
22 trisomy findings.