Cat Eye Syndrome (CES)

Cat eye syndrome (CES) is a chromosomal abnormality which is usually characterized by iris coloboma or a hole in the iris which makes the pupil look elongated; hence, “cat eye”. This rare disorder affects many parts of the body as the symptoms include unusually shaped ears with skin tags or pits, widely spaced eyes, cleft palate, developmental delay, intellectual disability, missing opening of the anus, and skeletal abnormalities. It is important to note that the symptoms may vary from person to person and that most cases are not hereditary. Specifically, those affected with this condition have an aberration regarding chromosome number 22.