Wings of HOPE as we REACH for the CURE to
Multiple Hereditary Exostoses Syndrome / Multiple Osteochondroma Syndrome






Welcome ! to the MHE Research Foundation website
The MHE Research Foundation is a nonprofit 501(c)(3) organization dedicated to the support of,
Researchers, Physicians and Families,
Dealing with (MHE) Multiple Hereditary Exostoses Syndrome/(MO) Multiple Osteochondroma Syndrome
a Rare Genetic Bone Disease.
The MHE Research Foundations five point mission is to
REACH, advance & support the following.
RESEARCH, to assist and support researchers in order to one day discover a treatment/cure for MHE/MO/HME.
Our foundation works hand in hand with researchers from around the world in this mission.
EDUCATION, to provide vital clinical informational guides benefiting both families and physicians.
ADVOCACY, bring awareness about this rare neglected bone disease throughout the world.
CLINICAL, to help provide resources to families enabling them to locate the medical care they require.
HOPE,  the research being conducted on MHE/MO/HME & the informational resources will bring a better quality of
life to the families affected by this syndrome around the world.
Scroll down to read highlights, use the tool bar section tabs above to view complete website information.
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Or email Boardofdirectors@mheresearchfoundation.org
The MHERF website has a language translations section,  you can find all website pages that have been encoded for translation
into German, Chinese, Japanese, Korean, Arabic, French, Portuguese, Spanish and Italian languages.
Become Part Of The Wings Of Hope...
As We Work Together To
REACH...
For The Cure...
General donations to our foundation can be made Monthly,Quarterly,Annually as well as one time donation
All donations made to the MHE Research Foundation are exempt from Federal Income Taxes under Section 501(c)(3) of the
Internal Revenue Code and are greatly appreciated. All donations go to help this foundation in its efforts to the further
understanding of MHE through research and education.
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cause by wearing a white ribbon this
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them know what our ribbon means.
CONNECTION CORNER
MHE FAMILY SUPPORT  SECTION
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The information provided here is for educational and informational purposes only. This website does not engage in the practice of medicine.
In all cases we recommend that you consult your own physician regarding any course of treatment or medicine.
 

This web page was updated last on 11/2/14/ 12:0O pm Eastern time
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website, also linked for Patient Information on
The Diseases Database a cross-referenced index of human disease, as well as the
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The MHE Research Foundationis proud to be a partnering society with ASMB  / MSTS  / CTOS
What is Multiple Hereditary Exostoses Syndrome?
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 "WHO".
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 or from the surface of flat bones throughout the body. The severity of this disease varies widely.
Some patients may have as few as two tumors, but most patients develop many more and the numbers of tumors can run into
the hundreds.

These cartilage-capped bone tumors are called Exostoses / Osteochondroma and may be sessile or pedunculated and vary
widely in size and shape. Pedunculated Exostoses / Osteochondroma is when a stalk is present, the structure is called
pedunculated.  These have a Broccoli like appearance with stalk and growth towards the end of the stalk. Sessile Exostoses /
Osteochondroma have a broad-base attachment to the outer bone, called the "cortex". These have a lumpy / bumpy appearance
(When no stalk is present, these are called sessile).

These Exostoses / Osteochondromas 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 malignant tumor
transformation (chondro-sarcoma) reported risk of 2%-5% over life time. It is not uncommon for MHE / MO / HME patients to
undergo numerous surgical procedures throughout their lives to remove painful or deforming Exostoses / Osteochondromas,
following these surgeries abnormal scarring can accrue with keloid formation.  MHE / MO / HME patient also need to undergo
surgeries to correct the bone deformities as well as limb length discrepancies and improve range of motion. New scientific
findings are also showing autism relevant behavioral phenotype connected to MHE / MO / HME.

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 chronic pain, fatigue and mobility problems throughout their lives.

MHE / MO / HME is a genetic autosomal dominant hereditary disorder affecting 1/50, 000 people. This means that a patient with
MHE / MO / MHE has a 50% chance of transmitting this disorder to his / her children.  Approximately 10% -20% of individuals
with MHE / MO / HME have the condition as a result of a spontaneous mutation are thus the first person in their family to be
affected.

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.
Show your support for the MHE Research Foundation by wearing an MHE Bracelet designed by
Vincent (an 18 old who was born with MHE and has had over 25 surgeries to date) 100% of the
proceeds goes towards finding a cure for MHE. The cost is $ 5.00 each and can be ordered by
contacting Susan Eaton at
mhefuntasia@gmail.com
Thanks a Bunch
If you are in the need of obtaining an Orthopaedic Surgeon and family support,  Vice President and Coordinator Clinical and
Research Information. Sarah Ziegler at
sarahziegler@mheresearchfoundation.org
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The MHE Research Foundation for other Orthopaedic and Research Educational Exhibits
During Society Meetings as well as Press Releases are located on a new webpage
Click Here
Opening remarks from Sarah Ziegler Foundation Vice
President during the 2012 MHE Research Conference
Opening remarks from Craig Eaton Foundation President
during the 2012 MHE Research Conference
The 5th International MHE Research Conference will be held June 24-26, 2016
Besides the Scientific sessions, Sunday June 26, 2016, MHE Patient/Family sessions will
be held as well as an MHE Clinic. Conference is being organized by Jeff Esko, Ph.D, Dror
Paley, MD, FRCSC and the MHE Research Foundation.  Please
Click Here for more
information
Also located on the conference webpage is Feb 2014 last conference report
Published in the Journal of Connective Tissue Research
Multiple hereditary exostoses (MHE): elucidating the pathogenesis of a rare skeletal disorder through interdisciplinary research.
Jones KB1, Pacifici M, Hilton MJ. Connect Tissue Res. 2014 Apr;55(2):80-8. doi: 10.3109/03008207.2013.867957. Epub 2014 Feb 12.
To read this pull text publication click here

Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: A mechanism likely
deranged in Hereditary Multiple Exostoses.
Huegel J, Mundy C, Sgariglia F, Nygren P, Billings PC, Yamaguchi Y, Koyama E, Pacifici M.
Dev Biol. 2013 Feb 28. pii: S0012-1606(13)00087-0. doi: 10.1016/j.ydbio.2013.02.008.

Validation of a new multiple osteochondromas classification through Switching Neural Networks.
Mordenti M, Ferrari E, Pedrini E, Fabbri N, Campanacci L, Muselli M, Sangiorgi L.
Click here to read full text Am J Med Genet A. 2013 Mar;161(3):556-60. doi: 10.1002/ajmg.a.35819. Epub 2013 Feb 8.

Loss of β-Catenin Induces Multifocal Periosteal Chondroma-Like Masses in Mice.
Cantley L, Saunders C, Guttenberg M, Candela ME, Ohta Y, Yasuhara R, Kondo N, Sgariglia F, Asai S, Zhang X, Qin L, Hecht JT, Chen D,
Yamamoto M, Toyosawa S, Dormans JP, Esko JD, Yamaguchi Y, Iwamoto M, Pacifici M, Enomoto-Iwamoto M.
Am J Pathol. 2013 Mar;182(3):917-27. doi: 10.1016/j.ajpath.2012.11.012.  

Multiple Hereditary Exostoses: Its Burden on Childhood and Beyond: Commentary on an article by A.L. Goud, MD, et al.:  
“Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands. A
National Cohort Study”.
Arkader A.
J Bone Joint Surg Am. 2012 Jun 6;94(11):e811-1
To read this full text publication
Click here

Autism-like socio-communicative deficits and stereotypies in mice lacking heparan sulfate.
Irie F, Badie-Mahdavi H,
Yamaguchi Y.
Proc Natl Acad Sci U S A. 2012 Mar 12.

HSPG-Deficient Zebrafish Uncovers Dental Aspect of Multiple Osteochondromas.
Wiweger MI, Zhao Z, van Merkesteyn RJ,
Roehl HH, Hogendoorn PC.
PLoS One. 2012;7(1):e29734. Epub 2012 Jan 11.
To read this full text publication
Click here

Epiphyseal growth plate and secondary peripheral chondrosarcoma the neighbours matter.
J Pathol. 2012 Jan;226(2):219-28. doi: 10.1002/path.3003. Epub 2011 Nov 23.
de Andrea CE,
Hogendoorn PC.
To read this full text publication Click here
Selected Publications for full listing Click here