Cat-eye syndrome
Cat-eye syndrome
Definition
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
Also known as CAT eye syndrome, cat-eye syndrome (Type I), CES — per MONDO