Disease Information for Cohen Syndrome

Synonyms:

CHS1 FORMERLY, COH1, Cohen syndrome, Cohen syndrome (disorder), Cohen's syndrome, HYPOTONIA OBESITY AND PROMINENT INCISORS, hypotonia obesity prominent incisors syndrome, Norio syndrome, obesity hypotonia syndrome, Pepper syndrome, prominent incisors obesity hypotonia syndrome

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CHS1 FORMERLY, COH1, Cohen syndrome, Cohen syndrome (disorder), Cohen's syn... (more)

Definition:

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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