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Hereditary Multiple Exostoses

What is Hereditary Multiple Exostoses?

Multiple Hereditary Exostoses / Multiple Osteochondroma is a rare genetic bone condition in which multiple benign cartilage-capped bone tumors called exostoses / osteochondromas develop. They grow outward from the metaphyses of long bones, growth plates or from the surface of flat bones throughout the body.

 

Multiple Hereditary Exostoses / Multiple Osteochondroma is a rare genetic bone condition in which multiple benign cartilage-capped bone tumors called exostoses / osteochondromas develop. They grow outward from the metaphyses of long bones, growth plates or from the surface of flat bones throughout the body.
Acknowledgement of Hereditary Multiple Exostoses has not been added yet.
2.0http://mheresearchfoundation.org
Synonyms for Hereditary Multiple Exostoses has not been added yet.
There are two known genes found to cause MHE / MO / HME they are EXT1 located on chromosome 8q23-q24 and EXT2 located on chromosome 11p11-p12. Approximately 60 to 70 % of mutations are located in the EXT1 gene and 20 to 30% are located in the EXT2 gene. In 10 to 20% of the patients, no mutation is found. MHE / MO / HME is an autosomal dominant hereditary disorder. MHE / MO / HME is a genetic autosomal dominant hereditary disorder, this means that a patient with this condition has a 50% chance of transmitting the disorder onto his/her children. This is equal for both male and female patients. Normally this disorder does not skip a generation. Mutations in the EXT1 and EXT2 genes cause Multiple Hereditary Exsotses/Multiple Osteochondroma. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, the exostosin 1 and 2 complex modifies a protein called heparan sulfate so it can be used by the cell. When there is a mutation in exostosin-1 or exostosin-2, heparan sulfate cannot be processed correctly and is nonfunctional.
These Exostoses / Osteochondroma's can cause numerous problems, including: 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; and an increased risk of developing chondro-sarcoma (Life time risk of 2%-5% reported). It is not uncommon for MHE / MO / HME patients to undergo numerous surgical procedures throughout their lives to remove painful or deforming Exostoses / Osteochondroma's and or to correct limb length discrepancies and improve range of motion. Surgery, physical therapy and pain management are currently the only options available to MHE / MO / HME patients, but their success varies from patient to patient and many struggle with pain, fatigue and mobility problems throughout their lives.
The diagnosis of MHE / MO / HME is most often made by a Pediatric Orthopaedic Surgeon. Exostoses / Osteochondroma can be diagnosed via X-Ray. The severity of this disease varies widely. Some patients may have as few asvtwo tumors, but most patients develop many more and the numbers of tumors can run into the hundreds.
Diagnostic tests of Hereditary Multiple Exostoses has not been added yet
There is no known drug treatment for MHE / MO / HME. It is not uncommon for MHE / MO / HME patients to undergo numerous surgical procedures throughout their lives to remove painful or deforming Exostoses / Osteochondroma's and or to correct limb length discrepancies and improve range of motion.
Prognosis of Hereditary Multiple Exostoses has not been added yet.
Tips or Suggestions of Hereditary Multiple Exostoses has not been added yet.
References of Hereditary Multiple Exostoses has not been added yet.
Multiple Hereditary Exostoses / Multiple Osteochondroma Created by SarahZiegler
Last updated 15 Feb 2009, 05:52 PM

Posted by SarahZiegler
15 Feb 2009, 05:52 PM

I have not seen any direct research on the EXT genes that would connect 12 deficiency to MHE/MO/HME. Neuropathy has is seen in MHE patients. Periphial neuropathy this all depends of the context in the use of this term... Regards Sarah

Posted by laurie
14 Feb 2009, 06:44 PM

Our family has a B-12 deficiency and periphial neuropathy that seems to be associated with our HMO. Do you have any information about this? Laurie

Posted by SarahZiegler
10 Dec 2008, 03:43 PM

The MHE Research Foundation is always happy to assist MHE / MO / HME families in obtaining the medical information they need. Please feel free the to post your question and comments. Sincerely Sarah Ziegler The MHE Research Foundation Vice President & National Director of Research Executive Director, The MHE National Research Registry & Coordinator of Clinical Information Liaison Officer, University of Antwerp, Department of Genetics, Belgium Liaison Officer, Rizzoli Orthopaedic Institute, Genetics Unit, Bologna Italy

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The MHE Research Foundation

The MHE Research Foundation is a nonprofit 501(c) (3) organization for the support of researchers, families & physicians dealing with (MHE) Multiple Hereditary Exostoses (MO) Multiple Osteochondroma a rare genetic bone disease.

 

 

The MHE Research Foundation Five point mission is to REACH, advance and support the following.

 

 

RESEARCH, to help researchers one day find a treatment / cure for MHE. Our foundation works hand in hand with researchers from around the world on this mission.

 

 

EDUCATION, to provide clinical informational guides to help benefit both families and physicians.

 

 

ADVOCACY, bring awareness about this disease in all areas throughout the world.

 

 

CLINICAL, to help provide resources to families enabling them to find the medical care they need.

 

 

HOPE, is that the research being conducted on MHE, the informational resources will bring a better quality of life to the families affected by this disease.

 

03/20/2017

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Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Multiple Hereditary Exostoses / Multiple Osteochondroma

Created by SarahZiegler | Last updated 15 Feb 2009, 05:52 PM


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