Multiple osteochondromatosis

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Multiple hereditary exostoses (MHE) also often referred to as Hereditary multiple exostoses (HME). Multiple osteochondromas (MO) is the preferred term used by the World Health Organization.

MHE/MO/HME is a genetic bone disorder in which benign cartilage-capped bone tumors grow outward from the metaphyses of long bones, growth plates of long bones, or from the surface of flat bones throughout the body.

Exostoses or osteochondromas can cause numerous problems: compression of peripheral nerves or blood vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature; limb length discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis; increased risk of developing chondrosarcoma, which has a reported risk of 2%-5% over a lifetime.

It is not uncommon for people with MHE/MO/HME to undergo numerous surgical procedures throughout their lives to remove painful or deforming exostoses or osteochondromas, or to correct limb length discrepancies and improve range of motion.

1 Genetics
2 Resources
3 See also
4 External links

[edit] Genetics

Multiple osteochondromatosis is inherited in an autosomal dominant fashion.

MHE/MO/HME is an autosomal dominant hereditary disorder. This means that a patients with MHE/MO/MHE has a 50% chance of transmitting this disorder to their children. This is equal for both male and female patients. Normally this disorder does not skip a generation.

Most individuals with MHE/MO/HME have a parent who also has the condition, however, approximately 10% -20% of individuals with MHE/MO/HME have the condition as a result of a spontaneous mutation are thus first in their family to be affected.

There are two known Genes that cause this disease: EXT1 located on chromosome 8q23-q24, and EXT2 located on chromosome 11p11-p12. Approximately 60 to 70% are located EXT1 gene and 20 to 30% are located EXT2 mutation. Genetic testing, Prenatal diagnosis and Preimplantion genetic diagnosis "PDG" are available.

The major defect in the EXT genes that cause MHE is the lack of heparan sulphate.

[edit] Resources

The MHE Research Foundation, includes comprehensive information on current research and MHE conferences, orthopaedics, genetics and chronic pain that can be associated with this disorder.

The MHE Coalition is a 501(c)(3) non-profit organization founded in 2000 dedicated to finding the causes, treatments and ultimately the cure for MHE, and to providing support and information to families living with this rare bone disorder.

MHE and Me is a support group dedicated to providing a supportive community for children diagnosed with MHE and their families. The Bumpy Bone Club provides a place for kids to share their stories and find new friends, as well as a source of tools and resources for kids to use with their families, doctors and schools.