" /> Cat-eye syndrome - CISMeF





Preferred Label : Cat-eye syndrome;

ICD-11 definition : Cat-eye syndrome is a chromosomal anomaly syndrome characterized by two major features: anal atresia and coloboma of the iris, from which the name of the syndrome derives. However, patients present with a very heterogeneous range of manifestations, including : preauricular skin tags or/and pits, cardiac defects, cleft palate and urinary tract or skeletal anomalies and moderate intellectual deficit.;

ICD-11 synonym : Ocular coloboma - imperforate anus; chromosome 22 inversion or duplication;

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Cat-eye syndrome is a chromosomal anomaly syndrome characterized by two major features: anal atresia and coloboma of the iris, from which the name of the syndrome derives. However, patients present with a very heterogeneous range of manifestations, including : preauricular skin tags or/and pits, cardiac defects, cleft palate and urinary tract or skeletal anomalies and moderate intellectual deficit.

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28/07/2025


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