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), and heart and kidneys. Intellectual disability is usually mild or borderline normal.
CES has an estimated prevalence of 1/50,000 to 1/150,000 live births. Males and females appear to be affected equally.
CES covers a very wide clinical spectrum in terms of features and severity, ranging from normal phenotype to severe multisystemic disease. The 3 main visible characteristics are preauricular anomalies, anal atresia, and iris coloboma. None are found systematically. Preauricular skin tags and/or pits are the most consistent feature. The typical eye anomaly is absent in up to 50% of patients. Eye coloboma may involve the iris, the choroid and/or the retina. Less frequently, unilateral microphtalmia, aniridia, cornea clouding, cataract and/or Duane anomaly are observed. In addition to preauricular tags and/or pits, the external ears may be low-set and severely reduced with possible atresia of the external ear canal. Characteristic facial features are down-slanting palpebral fissures, inner epicanthic folds, hypertelorism, flat nasal bridge, and small mandible. Cleft lip/palate is sometimes observed. In some individuals, the anal canal is narrow or absent with a fistula from the rectum into abnormal location (the bladder, vagina or perineum). The most frequently reported congenital heart defect is total anomalous pulmonary venous return (TAPVR), and less frequently tetralogy of Fallot (see these terms). Congenital kidney abnormalities include absence of one or both kidneys, hydronephrosis, supernumerary kidneys, and/or renal hypoplasia. Skeletal abnormalities include spinal defects and limb malformations. Possible gastrointestinal malformations are biliary atresia, intestinal malrotation and/or Hirschsprung disease (see this term). Other variable features include hernias, cryptorchidism and hypospadias in males. Rarer malformations may affect almost every organ. Most patients have mild intellectual disability, some moderate to severe, but a few have normal cognitive development. Short stature with growth hormone deficiency is possible in some cases.
Most patients harbor a small supernumerary bisatellited marker chromosome (sSMC) that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.
The diagnosis, suspected on the basis of clinical manifestations, is based on cytogenetic testing showing the presence of extra material derived from chromosome 22q11. Fluorescence in situ hybridization (FISH) with specific probes is needed to detect a low level mosaicism.
Differential diagnosis includes other chromosomal disorders with overlapping phenotypes, CHARGE association and VACTERL association (see these terms).
Prenatal diagnosis is possible through karyotyping and FISH analysis of prenatal samples.
The extra chromosome usually arises de novo.
Multidisciplinary management is necessary depending on the specific symptoms that are apparent in each patient. Surgical correction is necessary for anal atresia and severe cardiac malformations. Bacterial infections should be anticipated and treated vigorously. Visual and hearing impairment should be checked for. Early intervention with educational support could be beneficial.
Some patients die from severe malformations in early infancy. Otherwise, life expectancy is generally not significantly reduced.
Last update: January 2016