Cat eye syndrome
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- See also: Trisomy 22
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| Cat eye syndrome Classification and external resources | |
| OMIM | 115470 |
|---|---|
| DiseasesDB | 29864 |
Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch. Cat Eye Syndrome is a very rare malformation involving Chromosome 22. The short arm (p) and a small section of the long arm (q) are present three (trisomic) or four times[1] (tetrasomic) instead of the usual two times. The additional chromosome 22 usually arises spontaneously (de novo), though it has been reported to have been passed down in families, and some reports show the parents as mosaic for the marker chromosome but who show no phenotypic (outer) symptoms of the syndrome.
The chromosomal area included in the Cat Eye Syndrome "critical region" is 22pter-->q11.
History
The first association of the common abnormalities common to CES was established over 100 years ago (1898) by Haab,[1] and first described in association with a small marker chromosome in 1965 by Schachenmann.[1]
A first report of a familial trisomy 22 pter-->q11happened in 1972 by Bühler et al.[1] Early reports of Cat Eye Syndrome discuss the possibility of chromosome 13 involvement. Now, CES is considered to be present with the chromosome 22 trisomy findings.
Genetics
22q11.2 is a very unstable region of chromosome 22, which is involved in other syndromes, such as 22q11 deletion (a microdeletion of that area of the chromosome) and supernumerary der(22) syndrome, also known as trisomy 22 or partial trisomy 11/22.
Presentation
The most common association of symptoms include coloboma of the iris, renal abnormalities, and imperforate anus. Life expectancy is not significantly reduced in those patients who do not present with life threatening abnormalities.
The term "Cat Eye" syndrome was coined due to the particular appearance of the vertical colobomas in the eyes of some patients. However, over 1/2 of the CES patients in the literature do not display this trait.
Characteristics
- Anal atresia (abnormal obstruction of the anus)
- Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes)
- Palpebral fissures (downward slanting openings between the upper and lower eyelids)
- Preauricular pits/tags (small depressions/growths of skin on the outer ears)
- Cardiac defects
- Kidney problems (missing, extra, or underdeveloped kidneys)
- Short stature
- Scoliosis/Skeletal problems
- Mental retardation -- although most are borderline normal to mildly retarded, and a few even have normal intelligence, CES patients occasionally exhibit moderate to severe retardation.
- Micrognathia (smaller jaw)
- Hernias
- Cleft palate
- Rarer malformations can affect almost any organ
References
fr:Syndrome des yeux de chatfi:Kissansilmäoireyhtymä
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
