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Start free with EleplanCat-eye syndrome
ORPHA:195Malformation syndrome
Also called CES
What it is
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.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
14- Abnormal cardiovascular system morphology
- Abnormal localization of kidney
- Abnormal rib morphology
- Chorioretinal coloboma
- Downslanted palpebral fissures
- Hip dysplasia
- Hydronephrosis
- Hypertelorism
- Hypotonia
- Intellectual disability, mild
- Intrauterine growth retardation
- Iris coloboma
- Renal hypoplasia/aplasia
- Short stature
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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