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Genetic and Rare Diseases Information Center (GARD)

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Cohen syndrome

Other Names for this Disease
  • COH1
  • Pepper syndrome
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Your Question

My two year-old daughter has the symptoms of Cohen syndrome. Could you please provide me with information about how this condition might be treated and what the prognosis is for individuals with it? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is 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.[1][2][3]
Last updated: 3/21/2013

What are the signs and symptoms of Cohen syndrome?

The signs and symptoms of Cohen syndrome may vary greatly from person to person. Some studies have suggested that a large number of people with Cohen syndrome have similar facial features regardless of ethnic background, including thick hair and eyebrows, long eyelashes, wave-shaped palpebral fissures, broad nasal tip, smooth or shortened philtrum, and hypotonic appearance.[3] 

Other findings that tend to be more common among almost all people with Cohen syndrome are listed below.[3]

Last updated: 3/21/2013

How is Cohen syndrome diagnosed?

The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However, the rate at which mutations are detected via genetic testing varies by ethnicity. For example, the mutation detection rate in COH1 is higher among the Finnish and Old Amish compared to individuals of from other populations. [3]
Last updated: 3/21/2013

How is Cohen syndrome treated?

There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections)  is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness.[2][3]
Last updated: 3/21/2013

What is the prognosis for individuals who have Cohen syndrome?

In general, Cohen syndrome does not appear to alter a person's life expectancy.[3]
Last updated: 3/21/2013