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Cat Eye Syndrome
Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development
Prevalence
1 / 100 000
1–9 per 100,000
US Estimated
Similar to US
Europe Estimated
Age of Onset
Congenital
ICD-10
Q92.4
Inheritance Pattern
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Cat Eye Syndrome is a rare genetic disorder caused by an abnormal extra chromosome, typically involving chromosome 22. This condition can affect multiple parts of the body, with symptoms varying widely among individuals.
5 Facts you should know
FACT
A chromosome abnormality that affects many different parts of the body
FACT
Clinical and phenotypic features are variable, and neurologic disturbance with delays of mental, psychologic, and motor development may be present
FACT
It is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, and frequent occurrence of heart and renal malformations
FACT
Cat eye syndrome is a rare genetic disease, characterized by modifications of chromosome 22 (partial trisomy or tetrasomy)
FACT
Life expectancy in cat eye syndrome (also known as Schmid-Fraccaro syndrome) depends on the number and variety of malformations, but in most cases the prognosis is favorable
Interest over time
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Common signs & symptoms
Symptoms vary widely and may include
Ocular
- Iris coloboma (often vertical, “cat-eye” appearance)
- Microphthalmia
Craniofacial
- Preauricular tags or pits
- Downslanting palpebral fissures
- Facial asymmetry
Cardiac
- Congenital heart defects (e.g., total anomalous pulmonary venous return, septal defects)
Gastrointestinal
- Anal atresia or imperforate anus
- Intestinal malformations
Renal
- Kidney malformations
- Hydronephrosis
Neurologic / Developmental
- Developmental delay (variable)
- Mild to moderate intellectual disability in some individuals
Current treatments
There is no cure for cat eye syndrome. Management is supportive and multidisciplinary
Organ-specific management
Surgical repair of cardiac, GI, ocular defects
Developmental support
Early intervention, speech/occupational therapy
Genetic counseling
References:
Schmid W, Fraccaro M. Partial trisomy 22: a new syndrome? Humangenetik. 1975;28(4):347–360. doi:10.1007/BF00275570 — Original description of the chromosomal abnormality now known as Cat Eye Syndrome. Bertini V, Riva D, Battini R, et al. Phenotype–genotype correlations in Cat Eye Syndrome with 22q11 duplications. Am J Med Genet A. 2004;129A(2):112–120. doi:10.1002/ajmg.a.30312 — Expanded clinical and genetic characterization. Greenwood R, Hirschhorn K. Cat Eye Syndrome (partial tetrasomy 22q11): a review of clinical features and diagnostic considerations. J Med Genet. 1995;32(10):813–821. doi:10.1136/jmg.32.10.813 — Comprehensive review of clinical features and diagnostics. Zaghloul NA, Quarrell OW. Update on Cat Eye Syndrome: clinical and cytogenetic perspectives. Expert Rev Mol Med. 2018;20:e3. doi:10.1017/erm.2018.3 — Modern insights into cytogenetics and phenotype variability. McGinniss MJ, Crabtree JS, Holmes LB. Cardiac anomalies in Cat Eye Syndrome: prevalence and surgical outcomes. Am Heart J. 1999;138(5 Pt 1):911–917. doi:10.1016/S0002-8703(99)70173-7 — Analysis of major congenital anomalies in CES.