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Cohen Syndrome

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Copyright 1990, 1995, 1996, 1997, 2005

Synonyms of Cohen Syndrome

Pepper Syndrome

Disorder Subdivisions

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 mental retardation. 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.
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Organizations related to Cohen Syndrome

Cohen Syndrome Association
DDC Special Needs Clinic
P.O. Box 845
15809 Madison Rd.
Middlefield OH 44062
Phone #: 410-632-1668
800 #: N/A
e-mail: cohensyndrome@hotmail.com
Home page: http://cohensyndrome.org
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org

Last modified Wednesday, November 26, 2008