Cohen Syndrome

National Organization for Rare Disorders, Inc.

Skip to the navigation

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 a fairly variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye abnormalities, and non-progressive intellectual disability. Affected individuals usually have microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant's age and sex. 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 certain white blood cells known as neutrophils (neutropenia) is present from birth in some affected individuals. Cohen syndrome is an autosomal recessive genetic disease caused by an altered gene located on chromosome 8.

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

Contact A Family

209-211 City Road
London, EC1V 1JN
United Kingdom
Tel: 2076088700
Fax: 2076088701
Tel: 8088083555
Email: info@cafamily.org.uk
Website: http://www.cafamily.org.uk/

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/

National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317
Watertown, MA 02272-0317
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@lighthouseguild.org
Website: http://www.napvi.org

National Neutropenia Network

P.O. Box 1693
Brighton, MI 48116
USA
Tel: (517)294-0736
Email: leereeves99@gmail.com
Website: http://www.neutropenianet.org

Retina International

Ausstellungsstrasse 36
CH-8005
Z rich,
Switzerland
Tel: 410444441077
Fax: 410444441070
Email: christina.fasser@retina-international.org
Website: http://www.retina-international.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

VISIONS Services for the Blind and Visually Impaired

500 Greenwich Street
3rd Floor
New York, NY 10013-1354
Tel: (212)625-1616
Fax: (212)219-4078
Tel: (888)245-8333
Email: info@visionsvcb.org
Website: http://www.visionsvcb.org

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:  5/4/2016
Copyright  2016 National Organization for Rare Disorders, Inc.