Multiple hereditary exostoses

Common Name(s)

Multiple hereditary exostoses

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple hereditary exostoses" for support, advocacy or research.

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MHE and Me

MHE and Me is the member branch of the MHE Coalition, a 501(c)(3) non-profit organization, dedicated to children with this rare bone disorder and their families. Through the Bumpy Bone Club, information and support are provided to children through membership packages mailed to children, teens and young adults; online support; gatherings of families, and the We Care program, which provides gift packages to children undergoing surgery, as well as to their siblings. Children are encouraged to participate in the Bumpy Bone Club Magazine, and to tell their stories on our website.

Last Updated: 1 May 2013

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MHE Coalition

The MHE Coalition provides support and information to those diagnosed with MHE/MO/HME. In addition, by funding and participating in research, awarding educational grants for qualified orthopedic residents to attend the prestigious Annual Baltimore Limb Deformity Course, and by working with our members and members of the medical and scientific communities, our organization is committed to finding ways to improve quality of life for those living with this rare bone disorder. Through MHE and Me we provide information, programs and support to children, teens and young adults with the disorder.

Last Updated: 26 Mar 2013

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MHE Research Foundation

The MHE Research Foundation is a nonprofit organization for researchers, families and physicians dealing with Multiple Hereditary Exostoses, a rare genetic bone disease. The MHE Research Foundation five point mission is to REACH, advance and support research, education, and advocacy, in order to bring hope to families affected by this disease.

Last Updated: 2 Dec 2009

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multiple hereditary exostoses" for support, advocacy or research.

Logo
MHE and Me

MHE and Me is the member branch of the MHE Coalition, a 501(c)(3) non-profit organization, dedicated to children with this rare bone disorder and their families. Through the Bumpy Bone Club, information and support are provided to children through membership packages mailed to children, teens and young adults; online support; gatherings of families, and the We Care program, which provides gift packages to children undergoing surgery, as well as to their siblings. Children are encouraged to participate in the Bumpy Bone Club Magazine, and to tell their stories on our website.

http://www.mheandme.com

Last Updated: 1 May 2013

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Logo
MHE Coalition

The MHE Coalition provides support and information to those diagnosed with MHE/MO/HME. In addition, by funding and participating in research, awarding educational grants for qualified orthopedic residents to attend the prestigious Annual Baltimore Limb Deformity Course, and by working with our members and members of the medical and scientific communities, our organization is committed to finding ways to improve quality of life for those living with this rare bone disorder. Through MHE and Me we provide information, programs and support to children, teens and young adults with the disorder.

http://www.mhecoalition.org

Last Updated: 26 Mar 2013

View Details
MHE Research Foundation

The MHE Research Foundation is a nonprofit organization for researchers, families and physicians dealing with Multiple Hereditary Exostoses, a rare genetic bone disease. The MHE Research Foundation five point mission is to REACH, advance and support research, education, and advocacy, in order to bring hope to families affected by this disease.

http://www.mheresearchfoundation.org

Last Updated: 2 Dec 2009

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Multiple hereditary exostoses" returned 39 free, full-text research articles on human participants. First 3 results:

Gradual lengthening of the ulna in patients with multiple hereditary exostoses with a dislocated radial head.
 

Author(s): Yong Jin Cho, Sung Taek Jung

Journal: Yonsei Med. J.. 2014 Jan;55(1):178-84.

 

Multiple hereditary exostoses of the forearm typically form in the distal ulna, causing disturbances in the growth of the ulna and functional disability. Multiple hereditary exostoses inhibit the growth of the ulna, leading to an acquisition of a varus deformity in the radius, which ...

Last Updated: 16 Dec 2013

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Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application.
 

Author(s): Md Ferdous Anower-E-Khuda, Kazu Matsumoto, Hiroko Habuchi, Hiroyuki Morita, Takashi Yokochi, Katsuji Shimizu, Koji Kimata

Journal: Glycobiology. 2013 Jul;23(7):865-76.

 

Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder with wide variation in clinical phenotype and is caused by heterogeneous germline mutations in two of the Ext genes, EXT-1 and EXT-2, which encode ubiquitously expressed glycosyltransferases involved in ...

Last Updated: 5 Jun 2013

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Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses.
 

Author(s): Julianne Huegel, Christina Mundy, Federica Sgariglia, Patrik Nygren, Paul C Billings, Yu Yamaguchi, Eiki Koyama, Maurizio Pacifici

Journal: Dev. Biol.. 2013 May;377(1):100-12.

 

During limb skeletogenesis the cartilaginous long bone anlagen and their growth plates become delimited by perichondrium with which they interact functionally. Yet, little is known about how, despite being so intimately associated with cartilage, perichondrium acquires and maintains ...

Last Updated: 17 Apr 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Multiple hereditary exostoses" returned 3 free, full-text review articles on human participants. First 3 results:

Glycobiology and the growth plate: current concepts in multiple hereditary exostoses.
 

Author(s): Kevin B Jones

Journal: J Pediatr Orthop. ;31(5):577-86.

 

Multiple hereditary exostoses, also termed as multiple osteochondromas, is a heritable disorder of connective tissue with primarily orthopaedic clinical manifestations. Understanding of its biological underpinnings has been advanced on a variety of fronts in recent years.

Last Updated: 9 Jun 2011

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Hereditary multiple exostoses and heparan sulfate polymerization.
 

Author(s): Beverly M Zak, Brett E Crawford, Jeffrey D Esko

Journal: Biochim. Biophys. Acta. 2002 Dec;1573(3):346-55.

 

Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide ...

Last Updated: 5 Nov 2002

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Acetabular dysplasia associated with hereditary multiple exostoses. A case report.
 

Author(s): N A Felix, J M Mazur, E A Loveless

Journal: J Bone Joint Surg Br. 2000 May;82(4):555-7.

 

Hereditary multiple exostoses is an autosomal dominant disorder characterised by multiple osteochondromata, most commonly affecting the forearm, knee and ankle. Osteochondromata of the proximal femur have been reported to occur in 30% to 90% of affected patients with coxa valga in ...

Last Updated: 29 Jun 2000

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project
 

Status: Recruiting

Condition Summary: Exostoses, Multiple Hereditary

 

Last Updated: 27 Mar 2014

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