While some people may have few or mild manifestations, others may have multiple severe malformations. CES may be best thought of as a disorder spectrum. Associated symptoms vary greatly in presence and severity from one person to another, including among members of the same family. These symptoms result from abnormal development during embryo and fetal stages. There are, however, many other features associated with CES involving many organs and systems. This defect, known as a coloboma, usually appears as a cleft or gap in the iris below the pupil, and the elongated pupil therefore resembles the appearance of a cat’s eye. The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals.

In a small number of people with CES, the 22q11 region is present in 3 copies (partial trisomy). However, in individuals with CES, the short arm and a small region of the long arm of chromosome 22 (i.e., 22pter-22q11) are present four times (partial tetrasomy) rather than twice in cells of the body. Individuals with a normal chromosomal make-up have two 22nd chromosomes, both of which have a short arm, known as 22p, and a long arm, known as 22q. 5 Myths About Orphan Drugs and the Orphan Drug ActĬat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth.Information on Clinical Trials and Research Studies.

Mosaic shapes in vision