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Hereditary Multiple Osteochondromas

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Hereditary Multiple Osteochondromas 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

  • EXT
  • hereditary multiple exostoses
  • multiple osteochondromas
  • diaphyseal aclasis
  • external chondromatosis syndrome
  • multiple cartilaginous exostoses
  • multiple exostoses
  • multiple exostoses syndrome
  • multiple osteochondromatosis

Disorder Subdivisions

  • None

General Discussion

Summary

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced range of motion. Hereditary multiple osteochondromas is inherited as an autosomal dominant genetic condition and is associated with abnormalities (mutations) in the EXT1or EXT2 gene.



Introduction

Hereditary multiple osteochondromas was formerly called hereditary multiple exostoses.

Resources

NIH/National 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.org



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/



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/



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 (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:  9/19/2012

Copyright  1993, 2000, 2008, 2012 National Organization for Rare Disorders, Inc.

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