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Check this box if you wish to receive a copy of your message. Early intervention with educational support can be beneficial. Management and treatment Multidisciplinary management is necessary and depends on the specific symptoms that are apparent in each patient. Clinical description CES covers a very wide clinical spectrum in terms of features and severity, ranging from a normal phenotype to severe multisystemic disease. Bacterial infections should be anticipated and treated vigorously. The documents contained in this web site are presented for information purposes only. Etiology Most patients harbor a small supernumerary bisatellited marker chromosome sSMC that results in partial tetrasomy of 22pterq

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Characteristic facial features are down-slanting palpebral fissures, inner epicanthic folds, hypertelorism, flat nasal bridge, and small mandible.

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Management and treatment Multidisciplinary management is necessary and depends on the specific symptoms that are apparent in each patient. Diagnostic methods The diagnosis, suspected on the basis of clinical manifestations, is based on cytogenetic testing showing the presence of extra material derived from chromosome 22q For all other comments, please send your remarks via contact us. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Disease definition Cat eye syndrome CES is a rare chromosomal disorder with a highly variable clinical presentation.

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