Dyggve-Melchior-Clausen Syndrome

Common Name(s)

Dyggve-Melchior-Clausen Syndrome

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner. Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dyggve-Melchior-Clausen Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Dyggve-Melchior-Clausen Syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.
 

Author(s): Vladimir Kenis, Alexey Baindurashvili, Evgeniy Melchenko, Franz Grill, Ali Al Kaissi

Journal: Ger Med Sci. 2011 ;9():Doc25.

 

We describe the orthopaedic management of progressive genu varum in a child who manifested the full phenotypic characterization of Dyggve-Melchior-Clausen syndrome.

Last Updated: 3 Oct 2011

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The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
 

Author(s): Ariane Dimitrov, Vincent Paupe, Charles Gueudry, Jean-Baptiste Sibarita, Graça Raposo, Ole Vielemeyer, Thierry Gilbert, Zsolt Csaba, Tania Attie-Bitach, Valérie Cormier-Daire, Pierre Gressens, Pierre Rustin, Franck Perez, Vincent El Ghouzzi

Journal: Hum. Mol. Genet.. 2009 Feb;18(3):440-53.

 

Dyggve-Melchior-Clausen dysplasia (DMC) is a rare inherited dwarfism with severe mental retardation due to mutations in the DYM gene which encodes Dymeclin, a 669-amino acid protein of yet unknown function. Despite a high conservation across species and several predicted transmembrane ...

Last Updated: 15 Jan 2009

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Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.
 

Author(s): Anna B Osipovich, Jennifer L Jennings, Qing Lin, Andrew J Link, H Earl Ruley

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2008 Oct;105(42):16171-6.

 

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia are recessive spondyloepimetaphyseal dysplasias caused by loss-of-function mutations in dymeclin (Dym), a gene with previously unknown function. Here we report that Dym-deficient mice display defects in endochondral bone ...

Last Updated: 22 Oct 2008

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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 "Dyggve-Melchior-Clausen Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
 

Author(s): E Nectoux, B Hocquet, D Fron, A Mezel, A Paris, B Herbaux

Journal: Orthop Traumatol Surg Res. 2013 Oct;99(6):745-8.

 

Dyggve-Melchior-Clausen syndrome is a rare spondylo-epiphyseal disease, which almost constantly leads to both bilateral hip degeneration and dislocation. Few authors have reported to date the surgical management of this orthopaedic disorder. We present two new cases affecting siblings. ...

Last Updated: 7 Oct 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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