Cat-eye syndrome
Synonyms: CES
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cat-eye syndrome | CES |
| fr | Syndrome du cat-eye | CES · Syndrome de l'oeil de chat · Syndrome des yeux de chat |
| de | Katzenaugensyndrom | CES · Cat-Eye-Syndrom · Iriskolobom - Analatresie · Schmid-Fraccaro-Syndrom |
| es | Síndrome del ojo de gato | = en |
| it | Sindrome ''cat-eye'' | = en |
| nl | Kattenoogsyndroom | = en |
| pt | Síndrome "cat-eye" | = en |
| pl | Zespół kociego oka | Inwersja/duplikacja chromosomu 22 · Szczelina oka - zarośnięcie odbytu |
| cs | Syndrom kočičího oka | CES · Cat-eye syndrom |
| uk | Синдром котячого ока | = en |
| zh | 猫眼综合征 | = en |
| tr | Kedi-gözü sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115470 | E | validated | |
| ICD-10 | Q92.8 | NTBT | attributed | validated |
| ICD-11 | LD41.P | NTBT | index | validated |
| MONDO | 0007276 | E | validated | |
| MeSH | C535918 | E | validated | |
| UMLS | C0265493 | E | validated | |
| GARD | 26 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.35 / 100 000 | Europe | Value and class | Validated | 17001329[PMID]_Dr Catherine TURLEAU[EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_Dr Catherine TURLEAU[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002023 | Anal atresia | |
| HP:0004467 | Preauricular pit | |
| HP:0000384 | Preauricular skin tag | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001385 | Hip dysplasia | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000612 | Iris coloboma | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000078 | Abnormality of the genital system | |
| HP:0000365 | Hearing impairment | |
| HP:0000568 | Microphthalmia | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/195
- This record as JSON: /data/d/195.json