Cat-eye syndrome

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Cat-eye syndrome

Synonyms: CES

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Cat-eye syndrome?

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