Disease Information for Cohen Syndrome

Cohen Syndrome; Pepper Syndrome; Cohen syndrome is an extremely variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet and mental retardation; Affected individuals usually have heads that are smaller than average and a short upper lip through which the incisors are exposed; In many, but not all cases, obesity is present, especially around the torso and is associated with slender arms and legs; A lowered level of white blood cells (neutropenia) is present from birth in some affected individuals; Cohen syndrome is an autosomal recessive genetic disease caused by an abnormal gene located on chromosome 8 at 8q22-q23----[NORD 2005]------- Cohen syndrome is a rare genetic disorder characterised by typical facial features including a smaller than average head and a short upper lip which reveals the central teeth (incisors); The palate is often quite high and narrow; 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; The condition follows autosomal recessive inheritance

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