cat's-eye syndrome

cat's-eye syn·drome

[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.

Synonym(s): Schmid-Fraccaro syndrome

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Schmid,

W.,

Schmid-Fraccaro syndrome - iris colobomas and anal atresia, associated with an additional acrocentric chromosome. Synonym(s): cat's-eye syndrome

Medical Eponyms © Farlex 2012