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