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