Disease Information for Cohen Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Facies particular
Short upper lip
High arched palate
Incisors exposed
Hyperextensible digits
Hypotonia
Slender arms and legs
Tapering Slender Extremities
Mental Deficiency Child
Seizures
Hyperextensible joints Laxity Instability
Small hands/feet
Central obesity/sign
Dysmorphic appearance/face
Short stature
Short stature Child
Truncal obesity
Hemeralopia (inability to See in bright light)
Night blindness/Impaired night vision
Associated Diseases & Rule outs
Associated Disease & Complications
Cognitive/learning disability
Coloboma
Congenital eye disease/eye anomalies
Deafness
Granulocytopenia/Neutropenia
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Myopia
Obesity
Cohen Syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 8q22-q23
Pathophysiology/Gene locus 8p22
Pathophysiology/Gene locus 8q
Pathophysiology/Gene locus chromosome 8
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
Synonyms
Synonym
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, Synonym/Pepper syndrome (Cohen)
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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External Links Related to Cohen Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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