Cohen syndrome (Encyclopedia of Genetic Disorders)
Cohen syndrome is a very rare genetic disorder characterized by infantile hypotonia (a weakening of the skeletal muscles), childhood obesity, and several malformations.
Cohen syndrome was first described in 1973 by Dr. M. M. Cohen, Jr. in three children with distinct physical and developmental observations. Since then, over 100 cases have been reported throughout the world, offering the picture of an extremely rare disease with a wide range of clinical characteristics. The initial description given by Cohen included obesity, mental retardation, low muscle tone, narrow hands and feet, and distinctive facial features with prominent upper central teeth. As of 2001, the underlying cause of the disease remains unknown.
Cohen syndrome has also been referred to as Pepper syndrome, Hypotonia-Obesity-Prominent Incisors syndrome, Obesity-Hypotonia syndrome, and Mirhosseini-Holmes-Walton syndrome.
Research has suggested that the gene for Cohen syndrome lies between 8q21.3 and 8q22.1. This refers to a location on the long arm of chromosome 8 between positions 21.3 and 22.1 and is a rough estimate of where...
(The entire section is 1705 words.)
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