Cohen Syndrome

Below you will find more information about Cohen Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Cohen Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cohen Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cohen Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Cohen syndrome is an uncommon genetic condition characterized by obesity, prominent frontal teeth, and decreased muscle tone. In some individuals, there is a low level of white blood cells. Its transmission is in an autosomal recessive manner with variable expression.

Diagnosis

Diagnosis of the syndrome can be done through clinical examination, but frequently challenging due to its variation in expression.

Treatment

Treatment alternatives vary depending on symptoms experienced and its severity. Successful treatment of obesity should decrease an individual's daily intake of calorie, at the same time as increasing activity level. Other options for obesity treatment include hormone replacement, surgical intervention, behavior modification engaging family, and exercise regimen.

Symptoms and Signs

Individuals with the syndrome may manifest some different symptoms including postnatal developmental deficiency, decreased tone of muscles, low birth weight, weakness, and obesity of the body trunk that starts mind-childhood. In rare cases, individuals may have colobomata, small eye, seizures, cardiac defects, and mild cutaneous syndactyly. The general appearance of the syndrome is obesity accompanied with elongated/thin legs and arms.

Causes

The cause is theorized to be gene mutation of the COH1 at locus 8q22. This mutation alters the functional characteristic of the gene, leading to the symptoms of the syndrome.

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