Cat-eye syndrome

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, CES, Cat Eye Syndrome, cat-eye syndrome (Type I), Inv dup(22)(q11), Schmid-Fraccaro syndrome, chromosome 22 partial tetrasomy

0 clinical trials for this condition and its sub-types, 0 tagged with Cat-eye syndrome itself.