Cat eye syndrome

Jun 18, 2020Download as pptx, pdf

14 likes622 views

Cat eye syndrome, or Schmid–Fraccaro syndrome, is a rare genetic disorder caused by the presence of extra parts of chromosome 22, resulting in various symptoms such as iris coloboma, preauricular pits, anal atresia, and additional skeletal and organ anomalies. The syndrome's name comes from the eye appearance in some patients, although this trait is not prevalent in all cases. The condition was first documented in 1899 and is now understood to be associated with chromosome 22 trisomy.

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Cat eye syndrome
Presented by: AhmedYahya

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.

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.

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.

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.

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Cat Eye Syndrome is a rare chromosomal disorder caused by tripling or quadrupling of parts of chromosome 22. It can affect individuals differently depending on severity. Signs may include coloboma of the iris, widely spaced eyes, ear growths, kidney and heart defects. While some have no outward symptoms, it can be suspected based on appearance and confirmed through genetic testing. There is no cure, but treatment focuses on managing affected body systems and individuals can live normal lives with treatment.

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Cat eye syndrome

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.

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Cat eye syndrome

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