Cat-eye syndrome (Q60225): Difference between revisions
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Revision as of 07:44, 14 August 2026
Cat-eye syndrome is a chromosomal anomaly syndrome characterised 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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1813923633 |
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| English | Cat-eye syndrome |
Cat-eye syndrome is a chromosomal anomaly syndrome characterised 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. |
