Hereditary Exostoses, Multiple

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/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

MHE Coalition
8838 Holly Lane
Olmsted Falls, OH 44138-2701
USA
Tel: 4402356325
Email: CheleZ1@aol.com
Internet: http://www.mhecoalition.com

MHE and Me- A Support Group for Kids with Multiple Hereditary Exostoses
14 Stony Brook Dr
Pine Island, NY 10969
USA
Tel: 8452586058
Fax: 8452586058
Email: mheandme@yahoo.com
Internet: http://www.geocities.com/mheandme

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

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