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.

Input patient's signs and symptoms

Narrow down the case reports

Total: 46 (papers)

(per page)

Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (63.5%)	6430083	Duplication of part of chromosome 1q: clinical report and review of literature. Michels VV, Berseth CL, O'Brien JF, Dewald G. Am J Med Genet. 1984;18(1):125-34. [ Show abstract ] [ Hide abstract ]
		Micrognathia Prominent forehead Slanting of the palpebral fissure


		Adult Aneuploidy Chromosome Mapping Chromosomes, Human, 1-3 Chromosomes, Human, 21-22 and Y Females Fibroblasts Genes Homo sapiens Infant, Newborn Male Phenotype Syndrome beta-Glucosidase
2 (61.1%)	24842361	Cat eye syndrome. Sharma D, Murki S, Pratap T, Vasikarla M. BMJ Case Rep. 2014;2014:. [ Show abstract ] [ Hide abstract ]
		Retrognathia Long philtrum Postaxial polydactyly


		Aneuploidy Atrial Septal Defects Birth Weight Chromosomes, Human, Pair 22 Congenital Heart Defects Eye Abnormalities Fatal Outcome Females Heart Ventricle Homo sapiens Infant, Newborn Microcephaly Monitoring, Physiologic Term Birth Ultrasonography
3 (57.8%)	15658620	A new case of a severe clinical phenotype of the cat-eye syndrome. Denavit TM, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont ML, Burglen L, Taillemite JL, Portnoi MF. Genet Couns. 2004;15(4):443-8. [ Show abstract ] [ Hide abstract ]
		Microcephaly Micrognathia


		Bradycardia Chromosomes, Human, Pair 22 Craniofacial Abnormalities Cytogenetics Fatal Outcome Females Fluorescent in Situ Hybridization Gene Duplication Genetic Counseling Genetic Markers Homo sapiens Infant, Newborn Microcephaly Phenotype Severity of Illness Index Stenosis Syndrome
3 (57.8%)	6588751	Cat-eye syndrome with unusual marker chromosome probably not chromosome 22. Rosenfeld W, Verma RS, Jhaveri RC. Am J Med Genet. 1984;18(1):19-24. [ Show abstract ] [ Hide abstract ]
		Micrognathia


		Anus, Imperforate Chromosome Banding Chromosomes, Human, 21-22 and Y Females Genetic Markers Homo sapiens Infant, Newborn Syndrome Trisomy
3 (57.8%)	819199	The problem of trisomy 22. A case report and a discussion of the variant forms. Zellweger H, Ionasescu V, Simpson J, Burmeister L. Clin Pediatr (Phila). 1976;15(7):601-6, 617-8. [ Show abstract ] [ Hide abstract ]
		Micrognathia


		Chromosomes, Human, 21-22 and Y Congenital Heart Defects Differential Diagnosis Eye Abnormalities Homo sapiens Infant Intellectual Disability Male Syndrome Trisomy
6 (54.6%)	3738402	The "cat eye" syndrome--report of a case with hypothyroidism. Ioan D, Dumitriu L, Fabritius K, Simescu M, Maximilian C. Endocrinologie. 1986;24(2):129-31. [ Show abstract ] [ Hide abstract ]
		Epicanthus Scoliosis Genu valgum


		Adult Homo sapiens Hypothyroidism Male Syndrome
7 (47.5%)	1519645	Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature. Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT Jr, Hennessy MD, Kahler SG. Am J Med Genet. 1992;44(1):24-30. [ Show abstract ] [ Hide abstract ]
		Microcephaly Long philtrum


		Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 22 Congenital Hand Deformities Homo sapiens Infant, Newborn Male Multigene Family Review Literature as Topic Syndrome
8 (44.7%)	3109242	A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency. Bouwes Bavinck JN, Weaver DD, Ellis FD, Ward RE. Am J Med Genet. 1987;26(4):825-31. [ Show abstract ] [ Hide abstract ]
		Microcephaly Blepharophimosis


		Eye Eye Abnormalities Females Growth Disorders Homo sapiens Intellectual Disability Male Microcephaly Syndrome
9 (43.9%)	23794175	Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. Quintero-Rivera F, Martinez-Agosto JA. Am J Med Genet A. 2013;161A(8):1985-91. [ Show abstract ] [ Hide abstract ]
		Retrognathia Facial asymmetry


		Adult Aneuploidy Chromosomes, Human, Pair 22 Eye Abnormalities Females Fluorescent in Situ Hybridization Homo sapiens Infant Phenotype
10 (39.0%)	23747353	Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome. Chen CP, Ko TM, Chen YY, Su JW, Wang W. Gene. 2013;527(1):384-8. [ Show abstract ] [ Hide abstract ]
		Microcephaly
		ADA2 CECR7

		Abortion, Eugenic Adult Aneuploidy Chromosomes, Human, Pair 22 Eye Abnormalities Females Genetic Markers Homo sapiens Mosaicism Pregnancy

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