Cat-eye syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CHROMOSOME 22 PARTIAL TETRASOMY
SCHMID-FRACCARO SYNDROME
CES
Chromosome 22 inversion/duplication
Ocular coloboma - imperforate anus
INV DUP(22)(q11)
Number of Symptoms 44
OrphanetNr: 195
OMIM Id: 115470
ICD-10: Q92.8
UMLs: C0265493
MeSH: C535918
MedDRA:
Snomed: 26445008

Prevalence, inheritance and age of onset:

Prevalence: 1.35 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Complex chromosomal rearrangement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
2
 (HPO:0000104) Renal agenesis 68 / 7739
3
 (HPO:0000078) Abnormality of the genital system Occasional [Orphanet] 33 / 7739
4
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
5
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
6
 (HPO:0000175) Cleft palate 349 / 7739
7
 (HPO:0009796) Branchial cyst Very frequent [Orphanet] 32 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
10
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
11
 (HPO:0000568) Microphthalmia 183 / 7739
12
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
13
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
14
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
15
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
16
 (HPO:0000611) Choroid coloboma 12 / 7739
17
 (HPO:0000369) Low-set ears 372 / 7739
18
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
19
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
20
 (HPO:0000384) Preauricular skin tag Very frequent [Orphanet] 62 / 7739
21
 (HPO:0004467) Preauricular pit 39 / 7739
22
 (HPO:0001256) Intellectual disability, mild 141 / 7739
23
 (HPO:0003974) Absent radius 26 / 7739
24
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
25
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
26
 (HPO:0005912) Biliary atresia 5 / 7739
27
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
28
 (HPO:0002566) Intestinal malrotation 89 / 7739
29
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
30
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
31
 (HPO:0001507) Growth abnormality 36 / 7739
32
 (HPO:0005160) Total anomalous pulmonary venous return 4 / 7739
33
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
34
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
35
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
36
 (OMIM) Agenesis of uterus 1 / 7739
37
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
38
 (OMIM) Malrotation of gut 1 / 7739
39
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
40
 (OMIM) Normal in majority of cases 1 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
42
 (OMIM) Coloboma of retina 2 / 7739
43
 (OMIM) Normal to mild mental retardation 1 / 7739
44
 (OMIM) Anal atresia with fistula 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal ...
Diagnosis OMIM Although CES was initially defined as the combination of an additional chromosome, with coloboma and anal atresia as primary features, it became evident from the patients reported by Schachenmann et al. (1965) that neither coloboma nor anal atresia ...
Clinical Description OMIM The variability of clinical features, particularly congenital malformations, is enormous (see Schachenmann et al., 1965, Schinzel et al., 1981, and Schinzel, 1994). Within a single family, a wide spectrum of features can be observed, ranging from marginally affected ...
Molecular genetics OMIM McDermid et al. (1986) isolated a single-copy DNA probe, D22S29, from a chromosome 22 library and localized it by in situ hybridization to the critical cat eye region. By dosage, this probe was present in 4 copies in ...
Population genetics OMIM There are no estimates on the incidence of the marker. An incidence between 1:50,000 and 1:150,000 seems a reasonable estimate from patients observed in Northeastern Switzerland during the last 20 years.