186 top medical experts on Schmid-Fraccaro syndrome across 17 countries and 7 U.S. states, including 23 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Schmid-Fraccaro syndrome: Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Support Organizations
  4. Synonyms: Cat Eye syndrome,  Chromosome 22 partial tetrasomy,  INV DUP(22)(Q11)


  

        

                    


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