Cat Eye syndrome


Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.


The list of signs and symptoms mentioned in various sources for Cat Eye Syndrome includes the 73 symptoms listed below: * 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 * Scoliosis * Hip dislocation * Behavioral problems * Imperforate anus


Anal fissure results from passage of large, hard stools that stretch the lining beyond its limits. It may also be due to prolonged diarrhea, strain on the perineum during childbirth and, rarely, from scar stenosis. Occasionally, anal fissure is secondary to proctitis, anal tuberculosis, cancer, or Crohn’s disease. Anal fissures are common in young infants but may occur at any age, with incidence decreasing rapidly with age. Studies suggest that 80% of infants will have had an anal fissure by age 1. Fissures are less common among school-age children than infants. They affect males and females equally.


These home medical tests may be relevant to Cat Eye Syndrome: * Vision and Eye Health: Home Testing: * Home Eye Tests * Home Vision Tests


Treatment varies according to the severity of the tear. Conservative treatment measures include stool softeners, dietary adjustment (addition of bulk to absorb water while in the intestinal tract), use of petroleum jelly and sitz baths, and cleaning more gently. Anesthetic ointment may be useful if pain interferes with normal bowel movements. Topical muscle relaxants may also be soothing. These measures generally heal more than 90% of anal fissures. For fissures that don’t heal with these treatments, injection of botulinum toxin into the anal sphincter will temporarily paralyze the anal sphincter muscle, thereby promoting healing. Another option for nonhealing fissures is a minor surgical procedure to relax the sphincter. For superficial fissures without hemorrhoids, forcible digital dilatation of the anal sphincter under local anesthesia stretches the lower portion of the sphincter. For complicated fissures, treatment includes surgical excision of tissue, adjacent skin, and mucosal tags and division of hypertrophied internal sphincter muscle to release tension.