Hereditary Exostoses, Multiple

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Hereditary Exostoses, Multiple

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Hereditary Exostoses, Multiple 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

  • Diaphyseal Aclasis
  • EXT
  • External Chondromatosis Syndrome
  • Multiple Cartilaginous Exostoses
  • Multiple Exostoses
  • Multiple Exostoses Syndrome
  • Multiple Osteochondromatosis

Disorder Subdivisions

  • None

General Discussion

Hereditary multiple exostoses (HME) is a rare genetic disorder characterized by multiple bony growths or tumors (exostoses), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These bony growths are covered by cartilage and usually continue to grow until shortly after puberty. Exostoses may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced range of motion. Hereditary multiple exostoses is inherited as an autosomal dominant genetic condition and is associated with abnormalities (mutations) in the EXT1 and EXT 2 genes.

Resources

NIH/NationaI Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/

MHE Coalition
6783 York Road, Apt. #104
Parma Heights, OH 44130-4596
USA
Tel: (440)842-8817
Email: CheleZ1@yahoo.com
Internet: http://www.mhecoalition.com

MHE and Me- A Support Group for Kids with Multiple Hereditary Exostoses
PO Box 651
Pine Island, NY 10969-0651
USA
Tel: (845)258-6058
Fax: (845)258-6058
Email: mheandme@yahoo.com
Internet: http://www.mheandme.com/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Internet: http://rarediseases.info.nih.gov/GARD

MHE Research Foundation
79-77 Street
Brooklyn, NY 11209
Tel: (718)569-0479
Fax: (201)786-1758
Tel: (877)486-1758
Email: sarahziegler@mheresearchfoundation.org
Internet: http://mheresearchfoundation.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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:  11/2/2009
Copyright  1993, 2000, 2008 National Organization for Rare Disorders, Inc.

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