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Genetic and Rare Diseases Information Center (GARD)

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Cohen syndrome

Other Names for this Disease
  • COH1
  • Pepper syndrome
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Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise.[1][2][3]
Last updated: 3/21/2013


  1. Blachford SL. Cohen syndrome. Encyclopedia of Genetic Disorders. 2013; Accessed 3/21/2013.
  2. García Ballesta C, Pérez Lajarin L, Cortés Lillo O. Cohen syndrome. Orphanet. 2004; Accessed 3/21/2013.
  3. Falk MJ, Wang H, Traboulsi EI. Cohen Syndrome. GeneReviews. March 2011; Accessed 3/21/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cohen syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cohen syndrome. Click on the link to view a sample search on this topic.