Cat eye syndrome

Jump to: navigation, search
Cat eye syndrome
OMIM 115470
DiseasesDB 29864

WikiDoc Resources for Cat eye syndrome

Articles

Most recent articles on Cat eye syndrome

Most cited articles on Cat eye syndrome

Review articles on Cat eye syndrome

Articles on Cat eye syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Cat eye syndrome

Images of Cat eye syndrome

Photos of Cat eye syndrome

Podcasts & MP3s on Cat eye syndrome

Videos on Cat eye syndrome

Evidence Based Medicine

Cochrane Collaboration on Cat eye syndrome

Bandolier on Cat eye syndrome

TRIP on Cat eye syndrome

Clinical Trials

Ongoing Trials on Cat eye syndrome at Clinical Trials.gov

Trial results on Cat eye syndrome

Clinical Trials on Cat eye syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Cat eye syndrome

NICE Guidance on Cat eye syndrome

NHS PRODIGY Guidance

FDA on Cat eye syndrome

CDC on Cat eye syndrome

Books

Books on Cat eye syndrome

News

Cat eye syndrome in the news

Be alerted to news on Cat eye syndrome

News trends on Cat eye syndrome

Commentary

Blogs on Cat eye syndrome

Definitions

Definitions of Cat eye syndrome

Patient Resources / Community

Patient resources on Cat eye syndrome

Discussion groups on Cat eye syndrome

Patient Handouts on Cat eye syndrome

Directions to Hospitals Treating Cat eye syndrome

Risk calculators and risk factors for Cat eye syndrome

Healthcare Provider Resources

Symptoms of Cat eye syndrome

Causes & Risk Factors for Cat eye syndrome

Diagnostic studies for Cat eye syndrome

Treatment of Cat eye syndrome

Continuing Medical Education (CME)

CME Programs on Cat eye syndrome

International

Cat eye syndrome en Espanol

Cat eye syndrome en Francais

Business

Cat eye syndrome in the Marketplace

Patents on Cat eye syndrome

Experimental / Informatics

List of terms related to Cat eye syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Overview

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,[2] and first described in association with a small marker chromosome in 1965 by Schachenmann.[3]

A first report of a familial trisomy 22 pter-->q11happened in 1972 by Bühler et al.[4] 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

  1. Rosias PR, Sijstermans JM, Theunissen PM; et al. (2001). "Phenotypic variability of the cat eye syndrome. Case report and review of the literature". Genet. Couns. 12 (3): 273–82. PMID 11693792.
  2. Haab, O. Albrecht v Graefes. Arch. Ophthal. 24: 257 only, 1879.
  3. Schachenmann G., Schmid W., Fraccaro M.; et al. (1965). "Chromosomes in Coloboma and Anal Atresia". Lancet. 2: 290. PMID 14330081.
  4. Bühler EM, Méhes K, Müller H, Stalder GR (1972). "Cat-eye syndrome, a partial trisomy 22". Humangenetik. 15 (2): 150–62. PMID 5049068.

de:Katzenaugen-Syndrom fi:Kissansilmäoireyhtymä


Linked-in.jpg