Cohen syndrome: Difference between revisions

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	Cohen syndrome;
OMIM	216550
DiseasesDB	29622

	WikiDoc Resources for Cohen syndrome
Articles
Most recent articles on Cohen syndrome Most cited articles on Cohen syndrome Review articles on Cohen syndrome Articles on Cohen syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Cohen syndrome Images of Cohen syndrome Photos of Cohen syndrome Podcasts & MP3s on Cohen syndrome Videos on Cohen syndrome
Evidence Based Medicine
Cochrane Collaboration on Cohen syndrome Bandolier on Cohen syndrome TRIP on Cohen syndrome
Clinical Trials
Ongoing Trials on Cohen syndrome at Clinical Trials.gov Trial results on Cohen syndrome Clinical Trials on Cohen syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Cohen syndrome NICE Guidance on Cohen syndrome NHS PRODIGY Guidance FDA on Cohen syndrome CDC on Cohen syndrome
Books
Books on Cohen syndrome
News
Cohen syndrome in the news Be alerted to news on Cohen syndrome News trends on Cohen syndrome
Commentary
Blogs on Cohen syndrome
Definitions
Definitions of Cohen syndrome
Patient Resources / Community
Patient resources on Cohen syndrome Discussion groups on Cohen syndrome Patient Handouts on Cohen syndrome Directions to Hospitals Treating Cohen syndrome Risk calculators and risk factors for Cohen syndrome
Healthcare Provider Resources
Symptoms of Cohen syndrome Causes & Risk Factors for Cohen syndrome Diagnostic studies for Cohen syndrome Treatment of Cohen syndrome
Continuing Medical Education (CME)
CME Programs on Cohen syndrome
International
Cohen syndrome en Espanol Cohen syndrome en Francais
Business
Cohen syndrome in the Marketplace Patents on Cohen syndrome
Experimental / Informatics
List of terms related to Cohen syndrome

VisualWikitext

Latest revision as of 00:01, 30 July 2012

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

Synonyms and keywords: Pepper syndrome, Cervenka syndrome, Hypotonia obesity and prominent incisors, Norio syndrome, Obesity-hypotonia syndrome, Prominent incisors-obesity-hypotonia syndrome

Overview

Cohen syndrome is characterized by obesity, mental retardation and craniofacial dysmorphism.

Historical Perspective

Cohen syndrome named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.

Pathophysiology

Cohen syndrome has an autosomal recessive transmission with variable expression.^[1] It is believed to be a gene mutation at locus 8q22 gene COH1.^[2]

Diagnosis

The signs and symptoms vary due to variable expression. There are variable degrees of mental retardation with occasional seizure and deafness in Cohen syndrome.

Physical Examination

General appearance is one of obesity with thin/elongated arms and legs.

Eyes

Ocular complications, though rare, are:

Hemeralopia (decreased vision in bright light)
iris/retinal coloboma
Microphthalmia
Myopia
Nystagmus
Optic atrophy
Pigmentary chorioretinitis
Strabismus

Mouth

Micrognathia
Short philtrum
High vaulted palate

External links

Template:WhoNamedIt

References

↑ Kivitie-Kallio S, Norio R (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". Am. J. Med. Genet. 102 (2): 125–35. PMID 11477603.
↑ Kolehmainen J, Black GC, Saarinen A; et al. (2003). "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport". Am. J. Hum. Genet. 72 (6): 1359–69. PMID 12730828.

de:Cohen-Syndrom fi:Cohenin oireyhtymä

Template:WS

[pmid11477603-1] Kivitie-Kallio S, Norio R (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". Am. J. Med. Genet. 102 (2): 125–35. PMID 11477603.

[pmid12730828-2] Kolehmainen J, Black GC, Saarinen A; et al. (2003). "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport". Am. J. Hum. Genet. 72 (6): 1359–69. PMID 12730828.

[1]

[2]

@@ Line 1: / Line 1: @@
+__NOTOC__
+{{SI}}
 {{Infobox_Disease
   | Name           = {{PAGENAME}}
@@ Line 16: / Line 18: @@
 {{CMG}}
-{{SK}} Pepper syndrome, Cervenka syndrome
+{{SK}} Pepper syndrome, Cervenka syndrome, Hypotonia obesity and prominent incisors, Norio syndrome, Obesity-hypotonia syndrome, Prominent incisors-obesity-hypotonia syndrome
-{{EH}}
 ==Overview==
-'''Cohen syndrome'''named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness is believed to be a [[gene]] [[mutation]] at locus 8q22 gene [[COH1]].<ref name="pmid12730828">{{cite journal |author=Kolehmainen J, Black GC, Saarinen A, ''et al'' |title=Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport |journal=Am. J. Hum. Genet. |volume=72 |issue=6 |pages=1359-69 |year=2003 |pmid=12730828 |url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=12730828}}</ref>  Cohen syndrome has several characteristics such as [[obesity]], [[mental retardation]] and craniofacial [[dysmorphism]].  It has an [[autosome|autosomal]] [[recessive]] transmission with variable expression.<ref name="pmid11477603">{{cite journal |author=Kivitie-Kallio S, Norio R |title=Cohen syndrome: essential features, natural history, and heterogeneity |journal=Am. J. Med. Genet. |volume=102 |issue=2 |pages=125-35 |year=2001 |pmid=11477603}}</ref>
+Cohen syndrome is characterized by [[obesity]], [[mental retardation]] and craniofacial [[dysmorphism]].
+==Historical Perspective==
+'''Cohen syndrome''' named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.
+==Pathophysiology==
+Cohen syndrome has an [[autosome|autosomal]] [[recessive]] transmission with variable expression.<ref name="pmid11477603">{{cite journal |author=Kivitie-Kallio S, Norio R |title=Cohen syndrome: essential features, natural history, and heterogeneity |journal=Am. J. Med. Genet. |volume=102 |issue=2 |pages=125-35 |year=2001 |pmid=11477603}}</ref> It is believed to be a [[gene]] [[mutation]] at locus 8q22 gene [[COH1]].<ref name="pmid12730828">{{cite journal |author=Kolehmainen J, Black GC, Saarinen A, ''et al'' |title=Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport |journal=Am. J. Hum. Genet. |volume=72 |issue=6 |pages=1359-69 |year=2003 |pmid=12730828 |url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=12730828}}</ref>
+==Diagnosis==
+The signs and symptoms vary due to variable expression.  There are variable degrees of [[mental retardation]] with occasional [[seizure]] and [[deafness]] in Cohen syndrome.
-Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.
+===Physical Examination===
+General appearance is one of [[obesity]] with thin/elongated arms and legs.
-Ocular complications, though rare, are listed as [[optic atrophy]], [[microphthalmia]], [[pigment]]ary [[chorioretinitis]], [[hemeralopia]] (decreased vision in bright light), [[myopia]], [[strabismus]], [[nystagmus]] and [[Iris (anatomy)|iris]]/[[retina]]l [[coloboma]].
+====Eyes====
+Ocular complications, though rare, are:
+*[[Hemeralopia]] (decreased vision in bright light)
+*[[Iris (anatomy)|iris]]/[[retina]]l [[coloboma]]
+*[[Microphthalmia]]
+*[[Myopia]]
+*[[Nystagmus]]
+*[[Optic atrophy]]
+*[[Pigment]]ary [[chorioretinitis]]
+*[[Strabismus]]
-General appearance is obesity with thin/elongated arms and legs.  [[Micrognathia]],  short [[philtrum]], and high vaulted [[palate]] are common.  Variable mental retardation with occasional [[seizure]] and [[deafness]] also is characteristic of Cohen syndrome.
+====Mouth====
+*[[Micrognathia]]
+*Short [[philtrum]]
+*High vaulted [[palate]]
 ==External links==
@@ Line 32: / Line 55: @@
 ==References==
-{{reflist}}
+{{reflist|2}}
 [[Category:Genetic disorders]]