Cat-Eye Syndrome


Cat eye syndrome is a rare genetic defect in chromosome 22 that makes your eye more ocular than round. There is a lack of ocualr tissue that affects the color region, the middle layer, and/or the innermost nerve membrane of both eyes. This affects both male and females, and about 74,000 people. Usaually the individual that is born with cat-eye syndrome is the only one in the family with the disorder. This genetic disoreder is inherited so the child is born with it.


About 41% of people with cat eye syndrome have three common symptoms; absence of tissue from the colored part of one or both eyes (iris coloboma), small growths of skin or depressions in the skin of the outer ears, and an absence or obstruction of the anus.
There are other symptoms of cat eye that you can look for in an individual such as downward slanting openings between the upper and lower eyelids, defects of the uninary tract which affects the kidneys, short stature, small lower jaw, fused legs, and missing ears. If you are born with it, you have mild mental retardation.
  • Small lower jaw.
  • Mild mental retardation.
  • Emotional retardation.
  • Missing kidney.cat_eye.gif
  • Extra kidney.
  • Absent ribs.
  • Small head.
  • absent toes.
  • fused legs.
  • Missing ears.

There is no specific treatment for the disorder but the treatment focuses on the symptoms the individual has. Some may need surgery to repair the defect. The surgery will let you live a perfectly normal life, let you have kids if you do not acquire retardation.
  • Growth hormone therapy


Another name for this disorder is Schmid-Fraccaro syndrome. It was first discovered in 1889 in Bartonella with a man named Henri Parinaud and provided the first clincial description of cat eye syndrome. In 1972 there was a charity established called PhysCap who were dedicated to improve the lives of children who suffer from severe physical disabilities. The name "cat eye" is given as the abnormality of the iris makes it look similar to a cat's eye.