Cohen syndrome

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Cohen syndrome
Classification and external resources
OMIM 216550
DiseasesDB 29622

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.[1] Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression.[2] There is evidence that this syndrome has a different mutation in the same gene as Mirhosseini-Holmes-Walton syndrome.[3][4]


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.

Case reports[edit]

One case of Cohen Syndrome, in a Palestinian boy from Tul-Karem, was reported in the Israeli monthly Kol Israel BeAsakim (in Hebrew) in the December 2007 issue. Over the past several years there have been approximately 50 new cases worldwide. There are population groups with this condition in Australia, the UK and the US. It still seems to go undiagnosed leaving the number of cases less than 500.


  1. ^ Kolehmainen J, Black GC, Saarinen A, et al. (2003). "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport". Am. J. Hum. Genet. 72 (6): 1359–69. doi:10.1086/375454. PMC 1180298Freely accessible. PMID 12730828. 
  2. ^ Kivitie-Kallio S, Norio R (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". Am. J. Med. Genet. 102 (2): 125–35. doi:10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0. PMID 11477603. 
  3. ^ Norio, R; Raitta, C (1986). "Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?". Am. J. Med. Genet. 25 (2): 397–8. doi:10.1002/ajmg.1320250227. PMID 3096139. 
  4. ^ Horn D, Krebsová A, Kunze J, Reis A (2000). "Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity". American Journal of Medical Genetics. 92 (4): 285–92. PMID 10842298. 

External links[edit]