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Cohen syndrome
What are the symptoms?
From mid childhood onwards, there is a tendency for people with Cohen syndrome to develop obesity, most often around the trunk. The limbs, however, remain slender and the hands and feet are often small and tapering. Low muscle tone is common in Cohen syndrome and the joints are usually over extendible. Moderate learning difficulties are also a feature. Other features associated with the condition include eye problems such as short sight, poor night vision or changes on the retina at the back of the eye. A low white blood cell count may also be present, although this does not often cause any symptoms. The signs and symptoms of Cohen syndrome are variable from one person to another.
Background
| Inheritance patterns and prenatal diagnosis 
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