Cohen syndrome

Jump to: navigation, search

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

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

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:

Mouth

External links

References

  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.
  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.

de:Cohen-Syndrom fi:Cohenin oireyhtymä



Linked-in.jpg