Cat Eye Syndrome

Definition

Definition of Cat Eye Syndrome
Cat Eye Syndrome (aka. CES) 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. 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. There is no significant reduction in life expectancy in patients who are not afflicted with one of CES' life threatening abnormalities. It is synonymous with Schmid-Fraccaro syndrome.

Symptoms

Symptoms of Cat Eye Syndrome
About 41 percent of individuals with cat eye syndrome have three symptoms in common:

• absence of tissue from the colored part of one or both eyes (iris coloboma)
• small growths of skin (tags) or depressions in the skin (pits) of the outer ears
• an absence or obstruction of the anus (anal atresia)

Causes

Causes of Cat Eye Syndrome
The syndrome is said to be caused by the extra chromosome 22 that typically arises spontaneously; however, reports also show that it is hereditary in families.

Diagnosis

Diagnosis of Cat Eye Syndrome
Since cat eye syndrome is inherited, a child is born with it. Diagnosis is usually based on the symptoms present. Genetic testing can confirm the presence of the specific genetic defect in chromosome 22 (tripling or quadrupling of parts of the chromosome) that is associated with the syndrome.

Treatment

Treatment of Cat Eye Syndrome
Treatment of cat eye syndrome focuses on the symptoms the individual has. Some children may need surgery to repair birth defects in the anus or heart. Life expectancy is not significantly reduced in those individuals who do not have life-threatening physical problems (such as a severe heart defect).

Prognosis

Prognosis of Cat Eye Syndrome
Consult with your doctor.

Prevention

Prevention of Cat Eye Syndrome
Consult with your doctor.