Cohen syndrome

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

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 [1] 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.

Cohen syndrome (also known as Pepper syndrome or Cervenka 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. Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression.

Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.

Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.

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.

External links

• Template:WhoNamedIt

References

Template:WS