Cat-eye syndrome

Molecular Etiology

 * Small, extra chromosome; frequently bisatellited, inverted duplication(22)(q11)
 * Often mosaic
 * Usually de novo

Associated Birth Defects

 * coloboma (iris)
 * Gastrointestinal Anomalies
 * anal atresia with fistula
 * Cardiac Defects
 * Renal Defects

Facial Features

 * downslanting eyes

Skin

 * preauricular tags / pits

Neurological

 * Borderline Intellectual Disability