Cat-eye syndrome

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.



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Narrow down the case reports



Total: 46 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
20
(4.0%)		 6694188
 Cat eye syndrome owing to tetrasomy 22pter leads to q11.
Wilson GN, Baker DL, Schau J, Parker J.
J Med Genet. 1984;21(1):60-3.
Hypertelorism
Aneuploidy Chromosome Banding Chromosomes, Human, 21-22 and Y Homo sapiens Infant Male Syndrome
20
(4.0%)		 2072964
 [Complex cyanotic heart defect in a newborn infant with cat eye syndrome].
Paul T, Reimer A, Wilken M, Miller K, Kallfelz HC.
Monatsschr Kinderheilkd. 1991;139(4):228-30.
Patent ductus arteriosus
Chromosome Aberrations Chromosomes, Human, 21-22 and Y Congenital Heart Defects External Ear Eye Abnormalities Females Homo sapiens Infant, Newborn Syndrome
20
(4.0%)		 1773537
 Extra small marker chromosome associated with normal phenotype due to 3:1 disjunction of t(14;22) in a parent. Implications for the origin of marker chromosomes.
Brondum-Nielsen K.
Clin Genet. 1991;40(3):215-7.
Spontaneous abortion
Chromosome Aberrations Females Genetic Markers Homo sapiens Male Phenotype Pregnancy
20
(4.0%)		 1424237
 Typical and partial cat eye syndrome: identification of the marker chromosome by FISH.
Liehr T, Pfeiffer RA, Trautmann U.
Clin Genet. 1992;42(2):91-6.
Coloboma
Anus, Imperforate Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 22 Females Fluorescent in Situ Hybridization Genetic Markers Homo sapiens Infant, Newborn Male Syndrome
20
(4.0%)		 1217955
 [Cat eye syndrome with pituitary dwarfism and normal mental development].
Pierson M, Gilgenkrantz S, Saborio M.
Arch Fr Pediatr. 1975;32(9):835-48.
Coloboma
Anus, Imperforate Child Chromosome Aberrations Chromosomes, Human, 21-22 and Y External Ear Homo sapiens Intelligence Male
20
(4.0%)		 336892
 Trisomy 22 with 'cat eye' anomaly.
Cervenka J, Hansen CA, Franciosi RA, Gorlin RJ.
J Med Genet. 1977;14(4):288-90.
Coloboma
Azure Stains Chromosomes, Human Chromosomes, Human, 21-22 and Y Cytological Techniques Females Genetic Techniques Homo sapiens Infant Trisomy
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000384 Preauricular skin tag Very frequent (99-80%)
HP:0002023 Anal atresia Very frequent (99-80%)
HP:0004467 Preauricular pit Very frequent (99-80%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0000567 Chorioretinal coloboma Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0001385 Hip dysplasia Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0008678 Renal hypoplasia/aplasia Frequent (79-30%)
HP:0100542 Abnormal localization of kidney Frequent (79-30%)
HP:0000078 Abnormality of the genital system Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 16

HPO ID Term # of case reports
HP:0000589 Coloboma 6
HP:0002023 Anal atresia 5
HP:0000135 Hypogonadism 2
HP:0000824 Growth hormone deficiency 2
HP:0004322 Short stature 2
HP:0000252 Microcephaly 1
HP:0000347 Micrognathia 1
HP:0000384 Preauricular skin tag 1
HP:0000568 Microphthalmia 1
HP:0000581 Blepharophimosis 1
HP:0000821 Hypothyroidism 1
HP:0001249 Intellectual disability 1
HP:0005160 Total anomalous pulmonary venous return 1
HP:0009792 Teratoma 1
HP:0009921 Duane anomaly 1
HP:0012732 Anorectal anomaly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID