Cat eye syndrome is a scarcely occurring genetic condition that may be present when people have additional copies of parts of the 22nd chromosome. Other names for this group of symptoms exist like Schmid-Fraccaro syndrome and Chromosome 22 Partial Tetrasomy. In the latter name, the “partial” means that additional copy or copies of chromosomes are incomplete or not normal. However, the name most associated with this disorder is Cat Eye syndrome, because in some individuals who have it, missing tissue from the eyes called coloboma, can give the pupils a catlike appearance; this symptom is not present in all people with the condition.
The degree to which Cat Eye syndrome is expressed can vary greatly. The two most common defects associated with it are coloboma and absence of the canal that forms the anus. Anal irregularities in females frequently include fissures into the vagina. When any of these defects are present, reconstruction or repair of this area is required.
Other defects associated with this condition include eyelid folds that may slant downward, eyes that are widely spaced apart, and depressions in the skin in front of the ears, which may also be misshapen. More severe defects that might necessitate repair present too, in some cases. These are a wide range of congenital heart defects, cleft palate defects, and malformations or defects in the urinary tract, which may involve the kidneys.
Some kids born with cat eye syndrome have mild mental retardation, but this is not always the case. They may be slightly shorter than peers. On rare occasions, they will also present with some malformations of the skeleton.
It isn’t always known exactly how Cat Eye syndrome manifests. It can occur in families and people who have the disorder have a one in two chance of passing it onto offspring. It’s thought that some people have the condition in very mild form, don’t know it, and may pass it on, but degree of inheritance from a family member who doesn’t have it, isn’t very clearly understood. The majority of kids born with this condition are the first kids in their family to have it.
Though the condition does incorporate a variety of defects that can be severe, outlook for people with Cat Eye syndrome is usually good. It does depend on related defect severity and successful treatment of whatever defects exists, particularly in heart, palate or urinary tract, in addition to treatment of any malformations of the anus. When these conditions can be addressed, many people will live a full life, may have children, and quite possibly will have very normal existences, particularly if they do not suffer from retardation.