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)
10 (39.0%)	7710257	Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition? Stoll C, Alembik Y, Dott B. Ann Genet. 1994;37(4):207-9. [ Show abstract ] [ Hide abstract ]
		Microcephaly


		Child, Preschool Congenital Heart Defects Duane Retraction Syndrome Females Genes, Recessive Homo sapiens Intellectual Disability
12 (30.8%)	11693792	Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Rosias PR, Sijstermans JM, Theunissen PM, Pulles-Heintzberger CF, De Die-Smulders CE, Engelen JJ, Van Der Meer SB. Genet Couns. 2001;12(3):273-82. [ Show abstract ] [ Hide abstract ]
		Hypospadias Preauricular skin tag Downslanted palpebral fissures


		Adult Chromosomes, Human, Pair 22 Craniofacial Abnormalities Females Fluorescent in Situ Hybridization Genetic Markers Homo sapiens Infant, Newborn Male Phenotype Pregnancy Syndrome
12 (30.8%)	7717422	Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. Knoll JH, Asamoah A, Pletcher BA, Wagstaff J. Am J Med Genet. 1995;55(2):221-4. [ Show abstract ] [ Hide abstract ]
		Downslanted palpebral fissures
		IGLC5

		Chromosome Aberrations Chromosome Banding Chromosomes, Human, Pair 22 Eye Abnormalities Homo sapiens Infant, Newborn Male Multigene Family Phenotype Syndrome
14 (29.2%)	1507792	[Bilateral colobomatous microphthalmus with orbital giant cysts in incomplete tetrasomy 22]. Lange W, Rochels R, Otte J, Schwinger E, Bartsch O. Klin Monbl Augenheilkd. 1992;200(6):671-3. [ Show abstract ] [ Hide abstract ]
		Orbital cyst


		Chromosome Aberrations Chromosomes, Human, Pair 22 Cyst DNA Probes Females Genetic Markers Homo sapiens Infant, Newborn Microphthalmos
15 (26.3%)	24959203 (4067088)	A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. Haltrich I, Piko H, Kiss E, Toth Z, Karcagi V, Fekete G. Mol Cytogenet. 2014;7:37. [ Show abstract ] [ Hide abstract ]
		Eczema Preauricular pit



15 (26.3%)	16293919	Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism. Matsumoto R, Shimizu C, Nagai S, Taniguchi S, Umetsu M, Kimura Y, Atsumi T, Yoshioka N, Kubo M, Koike T. Intern Med. 2005;44(10):1069-73. [ Show abstract ] [ Hide abstract ]
		Hypogonadism Preauricular pit


		Adult Anus, Imperforate Chromosomes, Human, Pair 22 Homo sapiens Hypogonadism Male Syndrome Trisomy
15 (26.3%)	6785205	The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA. Hum Genet. 1981;57(2):148-58. [ Show abstract ] [ Hide abstract ]
		Preauricular skin tag


		Adult Child Child, Preschool Chromosome Aberrations Chromosome Banding Chromosomes, Human, 21-22 and Y Eye Abnormalities Females Homo sapiens Infant Male Phenotype Ploidies Syndrome Trisomy
15 (26.3%)	3344779	Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R. Am J Med Genet. 1988;29(1):9-19. [ Show abstract ] [ Hide abstract ]
		Preauricular skin tag
		CHP1

		Anus, Imperforate Child, Preschool Chromosome Banding Chromosomes, Human, Pair 22 External Ear Females Homo sapiens Infant Male Syndrome Trisomy
15 (26.3%)	1359403	[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes]. Bartsch O, Aksu F, Fenner A, Schwinger E. Monatsschr Kinderheilkd. 1992;140(8):460-3. [ Show abstract ] [ Hide abstract ]
		Preauricular skin tag


		Anus, Imperforate Child, Preschool Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 22 Cryptorchidism Differential Diagnosis Fluorescent in Situ Hybridization Homo sapiens Male Metaphase Syndrome
20 (4.0%)	30799418	De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome. Vittas S, Efstathiou G, Tsakalidis C, Malamaki C, Antari V, Chatzitoliou E, Chatziioannidis I, Galli-Tsinopoulou A, Soubasi V. Cytogenet Genome Res. 2019;158(1):32-37. [ Show abstract ] [ Hide abstract ]
		Hypocalcemia


		22q11 Deletion Syndrome Abnormal Karyotype Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 22 DiGeorge Syndrome Females Fluorescent in Situ Hybridization Homo sapiens Infant, Newborn Nucleic Acid Amplification Techniques Sequence Deletion Syndrome

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