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Cohen syndrome
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Overview
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]
References
- Blachford SL. Cohen syndrome. Encyclopedia of Genetic Disorders. http://www.enotes.com/genetic-disorders-encyclopedia/cohen-syndrome. Accessed March 21, 2013.
- García Ballesta C, Pérez Lajarin L, Cortés Lillo O. Cohen syndrome. Orphanet. http://www.orpha.net/data/patho/GB/uk-cohen.pdf. Accessed March 21, 2013.
- Falk MJ, Wang H, Traboulsi EI. Cohen Syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1482/. Accessed March 21, 2013.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on Cohen syndrome. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cohen syndrome. Click on the link to go to OMIM and review these resources.