Cohen Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Cohen Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Cohen syndrome is an extremely variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet and intellectual disability. Affected individuals usually have heads that are smaller than average and a short upper lip through which the incisors are exposed. In many, but not all cases, obesity is present, especially around the torso and is associated with slender arms and legs. A lowered level of white blood cells (neutropenia) is present from birth in some affected individuals.

Cohen syndrome is an autosomal recessive genetic disease caused by an abnormal gene located on chromosome 8 at 8q22-q23.

Supporting Organizations

Cohen Syndrome Association

DDC Special Needs Clinic
14567 Madison Rd.
Middlefield, OH 44062
USA
Tel: (410)632-1668
Fax: (410)632-1697
Website: http://www.cohensyndrome.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  1/28/2016
Copyright  2005 National Organization for Rare Disorders, Inc.