Schmid-Fraccaro syndrome is also known as what?

Cat eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome.This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat eye syndrome have three (trisomic) or four (tetrasomic) copies of the genetic material contained in the abnormal chromosome instead of the normal two copies.The prognosis for patients with CES varies depending on the severity of the condition and their associated signs and symptoms, especially when heart or kidney abnormalities are seen.

Signs and symptoms are:

Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes).

Preauricular pits/tags (small depressions/growths of skin on the outer ears).Anal atresia (abnormal obstruction of the anus).Downward-slanting palpebral fissures (openings between the upper and lower eyelids).Cleft palate.

Kidney problems (missing, extra, or underdeveloped kidneys).Short stature.

Scoliosis/skeletal problems.Cardiac defects.Micrognathia (smaller jaw).

Hernias and Biliary atresia.

The term "cat eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some patients, but over half of the CES patients in the literature do not present with this trait.