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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cohen syndrome


Other Names for this Disease
  • COH1
  • Pepper syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How is Cohen syndrome treated?

There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correction of the problems, usually with glasses, often leads to general improvement of cognitive skills. If neutropenia (a condition in which an abnormally low number of white blood cells called neutrophils are present, which may result in an increased risk for infections)  is discovered when the blood is examined, treatment should be given. Follow-up should include annual eye exams and repeat testing of white blood cell count. Early intervention and physical, occupational, and speech therapy can address developmental delay, hypotonia, joint hyperextensibility, and motor clumsiness.[1][2]
Last updated: 3/21/2013

References
  1. García Ballesta C, Pérez Lajarin L, Cortés Lillo O. Cohen syndrome. Orphanet. 2004; http://www.orpha.net/data/patho/GB/uk-cohen.pdf. Accessed 3/21/2013.
  2. Falk MJ, Wang H, Traboulsi EI. Cohen Syndrome. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1482/. Accessed 3/21/2013.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
Other Names for this Disease
  • COH1
  • Pepper syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.