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Cat Eye Syndrome International


Address

via Casape 26
00156 Rome ITALY

Phone

+39 6 95 06 05 03

Description

Cat Eye Syndrome International (CESI) is a non-profit organization that supports individuals and families affected by Cat Eye Syndrome (CES), also known as Schimd-Fraccaro Syndrome. The mission of CESI is to be a resource for the global CES community and to spread awareness about CES to the general public. In conjunction with medical and research professionals, CESI is compiling an international patient registry to catalogue various CES phenotypes. Currently CESI supports pre/post natal and newborn screening programs and the Adopt a Family Program, in which individuals can donate to support the financial needs of families coping with CES. Cat Eye Syndrome is a rare genetic disease caused by a partial trisomy or tetrasomy of part of chromosome 22. The name derives from the coloboma of the iris, which gives the eyes a cat-like appearance in about 50% of the patient population. Additional effects of the disease highly variable, but can include cause severe malformations of almost all organ systems. Some associated effects include misshapen ears with outgrowths of skin known as tags or pits, atresia of the anal canal, fistulas of the rectum to abnormal areas such as the bladder or vagina, and congenital heart, renal, and skeletal defects. Facebook Name: https://www.facebook.com/cateyessyndromeinternational; Twitter Handle: @CESIonlus - https://twitter.com/CESIonlus

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