Cohen Syndrome

Abstract

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Synonyms of Cohen Syndrome

• Pepper Syndrome

Disorder Subdivisions

• No subdivisions found.

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.

Organizations related to Cohen Syndrome

• Cohen Syndrome Association
  • DDC Special Needs Clinic
  • 14567 Madison Rd.
  • Middlefield, OH 44062 USA
  • Phone #: 410-632-1668
  • 800 #: N/A
  • e-mail: N/A
  • Home page: http://www.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: N/A
  • Home page: http://rarediseases.info.nih.gov/GARD/
• 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
• MUMS National Parent-to-Parent Network
  • 150 Custer Court
  • Green Bay, WI 54301-1243 USA
  • Phone #: N/A
  • 800 #: N/A
  • e-mail: mums@netnet.net
  • Home page: http://www.netnet.net/mums/

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