Cat Eye Syndrom
By Reese VanArnhem and Anthony Demarco
What is it?
Cat eye syndrome is a rare disease that can occur at birth.Normal human beings have a chromosomal makeup of two 22nd chromosomes, and both of which have a short arm of 22p and a long arm called 22q. On the other hand in people who have cat eye syndrome the short arm and smaller area of the long arm of chromosome 22 are present three or four times rather than twice in cells of the body.
Symptoms
The signs and symptoms of Cat eye syndrome are...
- Skin tags or pits in front of the ears (small pieces of hanging skin)
- Conductive hearing loss (blockage of sound waves to the eardrum)
- Hyperthyroidism (stretched eyes)
- Developmental delay (growth delay)
- Urinary tract problems (issues with urination include blockage and overactive bladder)
- Cleft lip or palate ( facial malfunctions)
- anal antresia (opening to anus is missing)
Inheritance
Doctors aren't exactly sure why it doesn't form correctly. It is rarely passed down from parents but is still possible for it to occur in their child. When it is passed down to their child it is because of balanced translocation in one of the parents. Carriers of the translocation usually don't have any health problems but have a greater risk of having a child with chromosome abnormality. Furthermore, another way it can be inherited is when one parent may have a small extra chromosome that is made up of genetic material from chromosome 22 in either a couple of the cells or all of them. Since the symptoms can vary from family members the parent may not have any obvious symptoms or may only be indifferently affected.
Cat eye syndrome appears to be recessive but it is not recessive in the usual case. It is actually a autosomal recessive trait because it is a sex-linked inherited gene and can't be inherited any other way. People who have it have a 50% chance of their children inheriting the extra chromosome.
Cat eye syndrome appears to be recessive but it is not recessive in the usual case. It is actually a autosomal recessive trait because it is a sex-linked inherited gene and can't be inherited any other way. People who have it have a 50% chance of their children inheriting the extra chromosome.
Who is affected?
Between males and females cat eye syndrome can be estimated to have affected from one in every 50,000 to one in every 150,000 people based on a recent poll from the Swedish population. Since some of the affected individuals developed few associated features to the disorder it may remain unrecognized and can be "under diagnosed", making it difficult to determine the true frequency of cat eye syndrome in the general population. Ethnicity doesn't matter, both males and females can receive the disease.
Treatements
Cat Eye can't be cured because it is a permanent mutation to the chromosomes. However, many of the symptoms for cat eye can in fact be cured. Treatments for this may include....
- Surgery to fix: heart, intestinal, skeletal, or cleft palate problems
- Hormone therapy to help growing of the body
- Speech therapy for communication disorder
- Special education for those with learning disabilities