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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.

Coloboma

A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.

Total: 6

(per page)

PMID (PMCID)
23112755	OTHER
	A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.
	Cordova-Fletes C, Dominguez MG, Vazquez-Cardenas A, Figuera LE, Neira VA, Rojas-Martinez A, Ortiz-Lopez R. Mol Syndromol. 2012;3(3):131-135.
	A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.
11332976	MIXED_SAMPLE	Infant, Newborn
	Phenotypic variability of Cat-Eye syndrome.
	Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ. Genet Couns. 2001;12(1):23-34.
	Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known.
1424237	MIXED_SAMPLE	Infant, Newborn
	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.
	Three children are reported with typical cat eye syndrome (CES) and three more children with partial CES because of absence of coloboma, in which the supernumerary marker chromosome was studied by FISH.
6785205	MIXED_SAMPLE	Infant
	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.
	Characteristic features of the Cat Eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes.
7241528	MIXED_SAMPLE
	The aetiology of the cat eye syndrome reconsidered.
	Guanti G. J Med Genet. 1981;18(2):108-18.
	The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a typical clinical picture including anal atresia, ocular coloboma, preauricular tags or sinuses, congenital heart defects, urinary tracts anomalies, and mental and physical retardation.
1217955	MALE	Child
	[Cat eye syndrome with pituitary dwarfism and normal mental development].
	Pierson M, Gilgenkrantz S, Saborio M. Arch Fr Pediatr. 1975;32(9):835-48.
	In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type.