Cat eye syndrome: Difference between revisions

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{{Use dmy dates|date=December 2013}}
{{Short description|A rare chromosomal disorder}}
{{Infobox medical condition (new)
{{Use dmy dates|date=October 2023}}
| name            = Cat eye syndrome
| image          = Coloboma-2.png
| caption        = An example of the [[Coloboma|defect]] after which CES is named.
| symptoms        =
| synonyms    = CES<ref>{{cite web |title=Cat eye syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 |website=Orphanet |accessdate=20 March 2019}}</ref>
| onset          =
| duration        =
| types          =
| causes          =
| risks          =
| diagnosis      =
| differential    =
| prevention      =
| treatment      =
| medication      =
| prognosis      =
| frequency      = 1 in 74,000
| deaths          =
}}


'''Cat eye syndrome''' or '''Schmid–Fraccaro syndrome''', is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human [[chromosome 22 (human)|chromosome 22]] being present three ([[Trisomy|trisomic]]) or four times ([[Tetrasomy|tetrasomic]]) instead of the usual two times.<ref name="pmid11693792">{{cite journal |vauthors=Rosias PR, Sijstermans JM, Theunissen PM |title=Phenotypic variability of the cat eye syndrome. Case report and review of the literature |journal=Genet. Couns. |volume=12 |issue=3 |pages=273–82 |year=2001 |pmid=11693792 |doi=|display-authors=etal}}</ref> There is no significant reduction in [[life expectancy]] in patients who are not afflicted with one of CES' life-threatening abnormalities.
'''Cat eye syndrome''' (CES), also known as '''Schmid-Fraccaro syndrome''', is a rare [[genetic disorder]] characterized by the presence of a small extra chromosome derived from chromosome 22. This condition is named for the distinctive eye appearance that some affected individuals exhibit, although not all individuals with the syndrome have this feature.


==Signs and symptoms==
==Genetics==
* Unilateral or bilateral [[Iris (anatomy)|iris]] [[coloboma]] (absence of tissue from the colored part of the eyes)
Cat eye syndrome is caused by the presence of an extra chromosome fragment, known as a supernumerary marker chromosome, which contains duplicated material from chromosome 22. This extra genetic material can lead to a variety of developmental abnormalities. The syndrome is typically sporadic, meaning it usually occurs as a new mutation and is not inherited from a parent.
* Preauricular pits/tags (small depressions/growths of skin on the outer ears)
[[Image:Atresia.jpg|150px|thumb|X-ray image of anal atresia in human infant]]
* [[Anal atresia]] (abnormal obstruction of the anus)
* Downward-slanting [[Palpebral fissures]] (openings between the upper and lower eyelids)
* [[Cleft palate]]
* Kidney problems (missing, extra, or underdeveloped kidneys)
* Short stature
* [[Scoliosis]]/Skeletal problems
* Cardiac defects (such as [[TAPVR]])
* [[Micrognathia]] (smaller jaw)
* [[Hernia]]s
* Biliary atresia<ref>Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.
Allotey J, Lacaille F, Lees MM, Strautnieks S, Thompson RJ, Davenport M.
J Pediatr Surg. 2008 Sep;43(9):1736-40. doi: 10.1016/j.jpedsurg.2008.05.012.</ref>
* Rarer malformations can affect almost any organ
* [[Intellectual disability]] – many are intellectually normal; about 30% of CES patients have moderately impaired mental development, although severe intellectual disability is rare.<ref name=c22c />


The term "cat eye" syndrome was coined because of the particular appearance of the vertical [[coloboma]]s in the eyes of some patients. However, over half of the CES patients in the literature do not present with this trait.<ref name="c22c">{{cite web|title=Disorders of chromosome 22: Cat Eye Syndrome/Schmid Fraccaro Syndrome |url=http://www.c22c.org/ces.htm|website=www.c22c.org|publisher=Chromosome 22 Central|accessdate=22 December 2017|date=18 July 2017}}</ref>
==Clinical Features==
 
The clinical presentation of cat eye syndrome can vary widely among affected individuals. Common features include:
==Genetics==
The additional chromosome 22 usually arises spontaneously.  It may be hereditary and parents may be mosaic for the marker chromosome but show no [[Phenotype|phenotypic]] [[symptoms]] of the [[syndrome]].<ref>{{Cite web|url=https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome|title=Cat eye syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2018-04-17}}</ref>


The chromosomal area included in the cat eye syndrome "critical region" is 22pter→q11.
* [[Coloboma]] of the iris, which gives the eyes a "cat-like" appearance.
* [[Anal atresia]], a condition where the opening to the anus is missing or blocked.
* [[Ear]] abnormalities, such as preauricular tags or pits.
* [[Congenital heart defects]], which may include [[tetralogy of Fallot]] or other structural heart anomalies.
* [[Renal]] malformations, which can affect kidney function.
* [[Skeletal]] abnormalities, such as scoliosis or limb defects.


==History==
==Diagnosis==
The abnormalities common to cat eye syndrome were first cataloged in 1899.<ref>Haab, O. Albrecht v Graefes. [[Archives of Ophthalmology]], 24: 257 only, 1879</ref> It was described in association with a small marker chromosome in 1965.<ref>{{cite journal |author=Schachenmann G. |author2=Schmid W. |author3=Fraccaro M. |title=Chromosomes in Coloboma and Anal Atresia |journal=Lancet |volume=2 |issue= 7406|pages=290 |year=1965 |pmid=14330081 |doi=10.1016/S0140-6736(65)92415-3|display-authors=etal}}</ref> 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.<ref name="pmid5049068">{{cite journal |vauthors=Bühler EM, Méhes K, Müller H, Stalder GR |title=Cat-eye syndrome, a partial trisomy 22 |journal=Humangenetik |volume=15 |issue=2 |pages=150–62 |year=1972 |pmid=5049068 |doi=10.1007/BF00295742}}</ref>
Diagnosis of cat eye syndrome is typically made through [[chromosomal analysis]], such as [[karyotyping]] or [[fluorescence in situ hybridization]] (FISH), which can identify the presence of the extra chromosome 22 material. Genetic counseling is recommended for affected families.


==See also==
==Management==
*[[Trisomy 22]]
There is no cure for cat eye syndrome, and treatment is symptomatic and supportive. Management may involve:


==References==
* Surgical correction of anatomical abnormalities, such as anal atresia or heart defects.
{{reflist}}
* Regular monitoring and treatment of kidney function.
* Developmental support and educational interventions for children with learning difficulties.
* Regular ophthalmologic evaluations for eye abnormalities.


== External links ==
==Prognosis==
{{Medical resources
The prognosis for individuals with cat eye syndrome varies depending on the severity of symptoms and the presence of associated anomalies. With appropriate medical care and interventions, many individuals can lead relatively normal lives.
| DiseasesDB      = 29864
| ICD10          =
| ICD9            =
| ICDO            =
| OMIM            = 115470
| MedlinePlus    =
| eMedicineSubj  =
| eMedicineTopic  =
| MeshID          = C535918
| Orphanet        = 195
}}
* [http://www.cateyesyndrome.info Cat Eye Syndrome International (CESI onlus)]: Official International Association for Cat Eye Syndrome


{{Chromosomal abnormalities}}
==Related pages==
* [[Chromosome 22]]
* [[Genetic disorder]]
* [[Coloboma]]
* [[Congenital heart defect]]


[[Category:Congenital disorders]]
[[Category:Genetic disorders]]
[[Category:Syndromes affecting stature]]
[[Category:Rare diseases]]
[[Category:Syndromes affecting the jaw]]
[[Category:Syndromes]]
[[Category:Syndromes affecting the heart]]
[[Category:Syndromes affecting the kidneys]]
[[Category:Syndromes with cleft lip and/or palate]]
[[Category:Syndromes affecting the eyes]]
[[Category:Rare syndromes]]
{{dictionary-stub1}}

Revision as of 19:24, 22 March 2025

A rare chromosomal disorder



Cat eye syndrome (CES), also known as Schmid-Fraccaro syndrome, is a rare genetic disorder characterized by the presence of a small extra chromosome derived from chromosome 22. This condition is named for the distinctive eye appearance that some affected individuals exhibit, although not all individuals with the syndrome have this feature.

Genetics

Cat eye syndrome is caused by the presence of an extra chromosome fragment, known as a supernumerary marker chromosome, which contains duplicated material from chromosome 22. This extra genetic material can lead to a variety of developmental abnormalities. The syndrome is typically sporadic, meaning it usually occurs as a new mutation and is not inherited from a parent.

Clinical Features

The clinical presentation of cat eye syndrome can vary widely among affected individuals. Common features include:

  • Coloboma of the iris, which gives the eyes a "cat-like" appearance.
  • Anal atresia, a condition where the opening to the anus is missing or blocked.
  • Ear abnormalities, such as preauricular tags or pits.
  • Congenital heart defects, which may include tetralogy of Fallot or other structural heart anomalies.
  • Renal malformations, which can affect kidney function.
  • Skeletal abnormalities, such as scoliosis or limb defects.

Diagnosis

Diagnosis of cat eye syndrome is typically made through chromosomal analysis, such as karyotyping or fluorescence in situ hybridization (FISH), which can identify the presence of the extra chromosome 22 material. Genetic counseling is recommended for affected families.

Management

There is no cure for cat eye syndrome, and treatment is symptomatic and supportive. Management may involve:

  • Surgical correction of anatomical abnormalities, such as anal atresia or heart defects.
  • Regular monitoring and treatment of kidney function.
  • Developmental support and educational interventions for children with learning difficulties.
  • Regular ophthalmologic evaluations for eye abnormalities.

Prognosis

The prognosis for individuals with cat eye syndrome varies depending on the severity of symptoms and the presence of associated anomalies. With appropriate medical care and interventions, many individuals can lead relatively normal lives.

Related pages

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