Cat-eye syndrome (Q60225): Difference between revisions
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Síndrome do olho de gato é uma síndrome de anomalia cromossômica caracterizada por duas características principais: atresia anal e coloboma da íris, de onde deriva o nome da síndrome. No entanto, os pacientes apresentam uma gama muito heterogênea de manifestações, incluindo: pregas cutâneas pré-auriculares ou/e fossas, defeitos cardíacos, fenda palatina e anomalias do trato urinário ou esqueléticas e déficit intelectual moderado. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| 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. |
