Hereditary Exostoses, Multiple / Disease

Diseases & Conditions

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Hereditary Exostoses, Multiple

Synonyms of Hereditary Exostoses, Multiple

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

Disorder Subdivisions

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.

Organizations related to Hereditary Exostoses, Multiple

MHE Coalition
8838 Holly Lane
Olmsted Falls OH 44138-2701
Phone #: 440-235-6325
800 #: --
e-mail: [email protected]
Home page: http://www.mhecoalition.com
MHE Research Foundation
79-77 Street
Brooklyn NY 11209
Phone #: 718-569-0479
800 #: 877-486-1758
e-mail: [email protected]
Home page: http://mheresearchfoundation.org
MHE and Me- A Support Group for Kids with Multiple Hereditary Exostoses
14 Stony Brook Dr
Pine Island NY 10969
Phone #: 845-258-6058
800 #: --
e-mail: [email protected]
Home page: http://www.geocities.com/mheandme
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: [email protected]
Home page: http://www.niams.nih.gov/Health_Info

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