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Rabson-Mendenhall Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Rabson-Mendenhall Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Mendenhall syndrome

Disorder Subdivisions

  • None

General Discussion

Rabson-Mendenhall syndrome is an extremely rare genetic disorder characterized by severe insulin resistance. Insulin, a hormone produced by the pancreas, regulates blood sugar levels by promoting the movement of glucose (a simple sugar) into cells for energy production or into the liver and fat cells for storage.



Initial symptoms of Rabson-Mendenhall syndrome include abnormalities of the head and face (craniofacial region), abnormalities of the teeth and nails, and skin abnormalities such as acanthosis nigricans, a skin disorder characterized by abnormally increased coloration (hyperpigmentation) and "velvety" thickening (hyperkeratosis) of the skin, particularly of skin fold regions, such as of the neck, groin, and under the arms. In most cases, additional symptoms are present. Rabson-Mendenhall syndrome is inherited as an autosomal recessive trait.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



American Diabetes Association

1701 N. Beauregard Street

Alexandria, VA 22311

Tel: (703)549-1500

Fax: (703)549-6995

Tel: (800)342-2383

Email: askADA@diabetes.org

Internet: http://www.diabetes.org



NIH/Child Health and Human Development - Section on Endocrinology and Genetics

Bldg 31, Room 2A32, MSC 2425

31 Center Drive

Bethesda, MD 20892-2425

Tel: (301)402-1998

Fax: (301)402-2984

Email: stratakc@exchange.nih.gov

Internet: http://segen.nichd.nih.gov/index.html



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

MSC2425

Bethesda, MD 20892

Fax: (866)760-5947

Tel: (800)370-2943

TDD: (888)320-6942

Email: NICHDInformationResourceCenter@mail.nih.gov

Internet: http://www.nichd.nih.gov/



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

TDD: (888)205-3223

Internet: 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). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/15/2013

Copyright  2001, 2009, 2010, 2013 National Organization for Rare Disorders, Inc.

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