Cat eye syndrome
Other Names for this Disease
- Schmid-Fraccaro syndrome
- Chromosome 22 partial tetrasomy
- INV DUP(22)(Q11)
- Cat-eye syndrome
Because cat eye syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, congenital heart defects; anal atresia; cleft lip and/or palate; and certain skeletal abnormalities may require surgery. Children with delayed motor milestones (i.e. walking) may be referred for physical therapy or occupational therapy. Special education services are often necessary for children with intellectual disability.
Last updated: 4/12/2015
- Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA. Clinical characteristics of a sample of patients with cat eye syndrome. Rev Assoc Med Bras. July-August 2010; 56(4):462-465.
- Cat-eye syndrome. Orphanet. December 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195.
- Cat Eye Syndrome. NORD. 2002; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.