Cohen syndrome

Cohen syndrome
Classification and external resources
OMIM	216550
DiseasesDB	29622
GeneReviews	Cohen Syndrome
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Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is a genetic disorder.

This syndrome is believed to be a gene mutation in chromosome 8 at locus 8q22 gene COH1. Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression. There is some evidence that this syndrome has the same genetic cause as Mirhosseini-Holmes-Walton syndrome.

Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.

Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.

General appearance is obesity with thin/elongated arms and legs. Micrognathia, short philtrum, and high vaulted palate are common. Variable mental retardation with occasional seizure and deafness also is characteristic of Cohen syndrome.

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