Learn About Dyggve-Melchior-Clausen Syndrome

What is the definition of 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 trunk, 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 genetic changes in the DYM gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Dyggve-Melchior-Clausen Syndrome?
  • Dyggve-Melchior-Clausen syndrome
  • DMC syndrome
  • Dyggve-Melchior-Clausen disease
Who are the top Dyggve-Melchior-Clausen Syndrome Local Doctors?
PG
Pierre Gressens
Elite
Highly rated in
23
conditions

Université De Paris

School Of Biomedical Engineering And Imaging Sciences, 
London, ENG, GB 

Pierre Gressens practices in London, United Kingdom. Gressens is rated as an Elite expert by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Dyggve-Melchior-Clausen Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), and Bone Marrow Transplant.

ND
Nina Dupuis
Distinguished
Highly rated in
6
conditions

Inserm

Bretigny, FR 

Nina Dupuis practices in Bretigny, France. Dupuis is rated as a Distinguished expert by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Dyggve-Melchior-Clausen Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), and Rasmussen Encephalitis.

 
 
 
 
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VE
Vincent El Ghouzzi
Distinguished
Highly rated in
6
conditions

Université De Paris

Paris, FR 

Vincent El Ghouzzi practices in Paris, France. El Ghouzzi is rated as a Distinguished expert by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Dyggve-Melchior-Clausen Syndrome, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Dyggve-Melchior-Clausen Syndrome?

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