Cat Eye Syndrome

Introduction

Cat eye syndrome (CES) is a chromosome abnormality with an even more abnormal amount of symptoms and mystery. Being a rare disease that only effects 1: 50 000 to 1: 150 000 people, not much is currently known of CES. What will be covered of CES are the effected chromosomes, the cause, symptoms, diagnosis, and treatment of CES.

Effected Chromosome

Image: CES Normal Male Karyotype (Caption: Normal male karyotype shows chromosome 22 with normal short arm (22q) and long arm (22p))

Image: CES Karyotype affected Female (Caption: Karyotype of a CES affected female shows partial trisomy of chromosome 22 's long arm (22p)).

Within the first few reports, CES was thought to have affected chromosome 13. In contrast to that belief, CES

Colobama of the eyes can extend as far back to the sensitive tissue of the retina. However, this symptom is only present in half the reported cases known.)

Image: CES anal atresia (caption: Known as blockage or complete absence of the anus, anal atresia is a common symptom of CES that occurs in half known cases.)

With indications visible at birth to occurring later in life, CES has a wide range in variety and severity of symptoms. Major symptoms caused by CES effect the eyes (either bilateral or unilateral colobama), ears (crimped appearance and ear tags), craniofacial region (malformations of the skull and face), anal region (anal atresia and other malfunctions around the area), heart, and the kidneys (underdevelopment or absence of kidneys).

Shorter stature and insufficient levels of growth hormones are a common symptom as well.

Rarer malformations can effect almost every other organ. Behavioural problems can occur, but are not characteristic of CES. Mild to severe mental impairment is rare for patients suffering CES, but not

There is no prevention currently known for CES.

Conclusion

CES spawns from partial trisomy or tetrasomy within the 22nd chromosome. The exact cause of CES is not totally known, but it either arises spontaneously after fertilization or is past on from either effected parent. Symptoms range in intensity and assortment, with the most common of symptoms (eye colobama and anal atresia) only occurring in half known cases. Diagnosis is done most commonly through FISH and cytogenetic blood testing. Prescription drugs and surgeries can help lessen the effects of CES, but all treatment is symptomatic and only is aimed toward the symptoms. There is no known cure or prevention for CES

First catalogued in 1898 within the JAMA Ophthalmology medical journal, CES was first reported by Schmid W. and Fraccaro M. The beginning of this time in discovery, CES was supposedly caused by Chromosome 13. This along other fallacies regarding the syndrome have been disproved with further research. In short, information changes and further testing for this syndrome will develop knowledge of the syndrome in