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By Jordan Longo and Hunter Godfrey

Where on Chromosome is Problem?

Trisomy or Tetrasomy of the small arm and part of the long arm of Chromosome 22

What Is the Problem?


Symptoms of Cat-Eye Syndrome vary greatly in region of the body and severity. The disease features a great many possibilities of deformities, though the most common include the following:

  • Colboma (of ocular tissue) in one or both eyes

  • Misshapen ears, with unusual skin tags and/or pits

  • Atresia of the anal canal, and possible routing to other organs or areas of the body

  • Skeletal defects such as Scoliosis

  • In rarer cases, heart or kidney defects

  • Mild mental deficiencies

What is the Prognosis?

Survival rates of Schmid-Fraccaro Syndrome are generally pretty good. Though blindness may occur from the frequent Colbomas that appear in the ocular regions of patients, a large amount of the symptoms merely affect the appearance of those with this inherited syndrome. There do exist somewhat rare vital organ defects (usually of the heart), and anal atresia sometimes requires hospitalization. In rarer cases, as the extent of the disease can vary greatly from case to case, death can occur from other deformities. It is highly recommended to be examined in early stages by medical professionals.


Cite Your Sources

RareDiseases
PubMed


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