Cat eye syndrome

Congenital coloboma in a 67-years-old male patient who suffers CAE

Cat eye syndrome (CES) or Schmid–Fraccaro syndrome is an uncommon chromosomal disorder that involves a trisomy or tetrasomy of part of chromosome 22. The term of 'cat eye' is derived from the vertical, cat-like pupils that people with the syndrome often present. Symptoms associated with this syndrome are very variable and can affect almost every organ. Some of the most common features are:

• Anal atresia
• Ear tags
• Widely set eyes
• Strabismus (squinting)
• Heart defects
• Kidney malformations