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Cat Eye Syndrome

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Cami Cherry

on 7 February 2013

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Transcript of Cat Eye Syndrome

Cat Eye Syndrome Cat eye syndrome is a disease that can change the pupil of the person to look like a cats eye; though the symptom is rare. Facts of Cat Eye Syndrome Cat eye syndrome occurs in 1 in every 74,000
Cat eye syndrome is the same throught both genders
Cat eye syndrome is a rare disease that is common throughout all ethnicities A Symptom is that there is an absence of tissue in the one or both eyes Irises. Causes for cat eye syndrome Types of Test Mild mental retardation, Emotional retardation, Wide-set eyes, Down-slanting palpebral fissures, Inferior coloboma of iris, Inferior coloboma of choroid, Inferior coloboma of retina, Small lower jaw, Preauricular pits, Preauricular tags, Cardiac defects, Anal atresia, Rectovestibular fistula, Renal agenesis, Hernia, Scoliosis, Skeletal problems, Short stature, Kidney problems, Missing kidney, Extra kidney, Underdeveloped kidneys, Failure to thrive, Sloping forehead, Prominent back of skull, Large fontanelles, Widely patent cranial sutures, Epicanthal folds, Depressed nasal bridge, Long philtrum, Widely spaced nipples, Narrow chest, Small ears, External auditory canal atresia, Missing ears, Absent ear canal, Short neck, Low hairline at back of neck, Misaligned teeth, Cleft lip, Choanal atresia, Asymmetrical face, Wide mouth, Absent ribs, Stenosis of ribs, Small head, Hydrocephalus, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Hypoplasia of mitrial valve, Pulmonary segmentation defects, Persistent vena cava superior, Strabismus, Absence of iris, Small eyes, Cataracts, Rectovaginal fistula, Magaureter, Hypoplastic fingernails, Hypoplastic toenails, Vertebral fusion, Absent toes, Fused legs, Extra kidneys, Vesicourethral reflux, Hepatic biliary atresia, Renal cystic dysplasia, Knock knee, Hip dislocation, Behavioral problems, Imperforate anus Interesting facts!! Treatments Treatments of cat eye syndrome focuses on the symptoms the individual has. Life expectancy is not significantly reduced in those individuals who do not have life-threatening physical problems (such as a severe heart defect). Symptoms of Cat Eye Syndrome Is Cat Eye life ending??? It could be because it causes heart defects. Causes Cat eye is Autosomal Ressesive It is a Sex-linked (inherited) gene It is Not Inh 3 of the 22nd chromsone Cat Eye Syndrome Cat Eye Syndrome is an inherited disease caused mainly by an extra copy of the 22nd chromosone. The testing is Gene-mapping Very rarely will the pupil to be slited like a cat's eye. Only one person in a whole family will have this Genetic Disorder. Cat eye is Not a Non disjunction. It cant be Inherited any other way Sources www.rarediseases.org www.webmd.com www.pfond.cmmt.ubc.ca
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