These estimates are likely to be overestimates. Table 1 gives the estimated incidence of symptoms from two different studies. In general the abnormalities associated with CES tend to involve the eyes, ears, anal region, heart, and/or kidneys, but other organs may show involvement and some people show intellectual disability.īelow are discussed the most common features of CES. However, the syndrome is extremely variable, and it has been estimated that only 41% of patients with CES have this classic triad of symptoms (Berends et al, 2001).
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The classic symptoms associated with CES are ocular coloboma, anal atresia and the minor ear defect preauricular skin tags or pits (see below for explanations). 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.
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