Cohen Syndrome

Common Name(s)

Cohen Syndrome

Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cohen Syndrome" for support, advocacy or research.

Cohen Syndrome Ass

Mission: To raise awareness for earlier diagnosis of Cohen Syndrome. We A.R.E. Cohen Syndrome We Advocate, Research & Educate families And professionals about Cohen Syndrome

Last Updated: 8 Apr 2014

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cohen Syndrome" for support, advocacy or research.

Cohen Syndrome Ass

Mission: To raise awareness for earlier diagnosis of Cohen Syndrome. We A.R.E. Cohen Syndrome We Advocate, Research & Educate families And professionals about Cohen Syndrome

http://cohen-syndrome.org/

Last Updated: 8 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cohen Syndrome" returned 22 free, full-text research articles on human participants. First 3 results:

Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome.
 

Author(s): Philip Cokkinos, Aggeliki Gkouziouta, George Karavolias, Panagiotis Kariofillis, Vassilis Voudris

Journal: Hellenic J Cardiol. ;54(2):143-6.

 

We admitted a 16-year-old boy with the Cohen syndrome to our institution for increasing dyspnoea. Investigations revealed idiopathic pulmonary hypertension. He was commenced on bosentan and oral anticoagulation and was followed up for nearly 7 years, during which he was readmitted ...

Last Updated: 5 Apr 2013

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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
 

Author(s): Salima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, Anne Moncla, Anne-Marie Frances, Marlène Rio, François-Guillaume Debray, Patrick Rump, Alice Masurel-Paulet, Nadège Gigot, Patrick Callier, Laurence Duplomb, Bernard Aral, Frédéric Huet, Christel Thauvin-Robinet, Laurence Faivre

Journal: Eur. J. Hum. Genet.. 2013 Jul;21(7):736-42.

 

Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis ...

Last Updated: 13 Jun 2013

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Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report.
 

Author(s): Ioannis Vakalopoulos, Spyridon Kampantais, Panagiotis Dimopoulos, Christos Papastavros, Vasileios Katsikas

Journal:

 

Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies.

Last Updated: 31 Jan 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cohen Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.