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
Farlex Partner Medical Dictionary © Farlex 2012
Schmid-Fraccaro syndrome - iris colobomas and anal atresia, associated with an additional acrocentric chromosome. Synonym(s): cat's-eye syndrome
Medical Eponyms © Farlex 2012