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.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.


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PMID (PMCID)
7717422
 MALE Infant, Newborn
Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.
Knoll JH, Asamoah A, Pletcher BA, Wagstaff J.
Am J Med Genet. 1995;55(2):221-4.
Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22.