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| {{Infobox_Disease
| | #redirect:[[Cohen syndrome]] |
| | Name = {{PAGENAME}}
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| | Image =
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| | Caption =
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| | DiseasesDB = 29622
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| | ICD10 =
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| | ICDO =
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| | OMIM = 216550
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| }}
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| {{SI}}
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| {{CMG}}
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| {{SK}} Pepper syndrome, Cervenka syndrome, Hypotonia obesity and prominent incisors, Norio syndrome, Obesity-hypotonia syndrome, Prominent incisors-obesity-hypotonia syndrome
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| ==Overview==
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| Cohen syndrome is characterized by [[obesity]], [[mental retardation]] and craniofacial [[dysmorphism]].
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| ==Historical Perspective==
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| '''Cohen syndrome''' named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness.
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| ==Pathophysiology==
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| 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>
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| ==Diagnosis==
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| Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.
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| 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]].
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| 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.
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| ==External links==
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| * {{WhoNamedIt|synd|1185}}
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| ==References==
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| {{reflist|2}}
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| [[Category:Genetic disorders]]
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| [[Category:Disease]]
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| [[de:Cohen-Syndrom]]
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| [[fr:Syndrome de Cohen]]
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| [[fi:Cohenin oireyhtymä]]
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