Cat's-eye syndrome

[MIM*115470] a chromosomal disorder characterized by iris colobomas (resembling the vertical pupils of a cat), downslanting palpebral fissures, anal atresia, preauricular tags and/or pits, heart and renal malformations, and, occasionally, mild mental retardation; associated with chromosome partial tetrasomy 22. SYN: Schmid-Fraccaro syndrome.

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