cat eye syndrome , CAS (skrót)
Schmid-Fraccaro syndrome

The abnormalities common to cat eye syndrome were first cataloged in 1898.

The chromosomal area included in the Cat Eye Syndrome "critical region" is 22pter q11.

Early reports of Cat Eye Syndrome discuss the possibility of chromosome 13 involvement.

The name "cat eye syndrome" is derived from a distinctive eye (ocular) abnormality that is present in some affected individuals.

Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene.

Cat Eye Syndrome / Schmid Fraccaro Syndrome is a condition caused by a partial trisomy or tetrasomy in chromosome 22.

The genes appear to be a random assortment, including a large set of genes involved in the immune system and more than 20 genes that cause known human diseases when defective, such as DiGeorge and cat eye syndromes.