cat-eye syndrome
Findings
No curated finding names cat-eye syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007276), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anal atresiaHPOHP:0002023
- 61 of 88 reported patients
- Very frequent (80% to 99% of cases)
- Preauricular pitHPOHP:0004467
- Very frequent (80% to 99% of cases)
- Preauricular skin tagHPOHP:0000384
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 48 of 69 reported patients
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- 42 of 61 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 48 of 70 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 34
- HydronephrosisHPOHP:0000126
- 13 of 77 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 33 of 68 reported patients
- Frequent (30% to 79% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
Where it sits
- A kind of
Other names
3 names
Resolves to: cat-eye syndrome
- Also called
- CAT eye syndromecat-eye syndrome (Type I)CES