Dyggve-Melchior-Clausen Syndrome Overview

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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.
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?
Distinguished in Dyggve-Melchior-Clausen Syndrome
Wasim Ahmad
Distinguished in Dyggve-Melchior-Clausen Syndrome
Wasim Ahmad
Islamabad, IS, PK 

Wasim Ahmad practices in Islamabad, Pakistan. Mr. Ahmad is rated as a Distinguished expert by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. His top areas of expertise are Polydactyly, Woodhouse-Sakati Syndrome, Dyggve-Melchior-Clausen Syndrome, and Acromicric Dysplasia.

Distinguished in Dyggve-Melchior-Clausen Syndrome
Asmat Ullah
Distinguished in Dyggve-Melchior-Clausen Syndrome
Asmat Ullah
Islamabad, IS, PK 

Asmat Ullah practices in Islamabad, Pakistan. Ullah is rated as a Distinguished expert by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. Their top areas of expertise are Dyggve-Melchior-Clausen Syndrome, Polydactyly, Acromicric Dysplasia, and Bardet-Biedl Syndrome.

 
 
 
 
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Distinguished in Dyggve-Melchior-Clausen Syndrome
Dr. Frank Huang
Endocrinology | Neurology
Distinguished in Dyggve-Melchior-Clausen Syndrome
Dr. Frank Huang
Endocrinology | Neurology

Adventist Health Physicians Network

729 Pauline Court, 
Sonora, CA 
209-588-8068
Languages Spoken:
English
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Frank Huang is an Endocrinologist and a Neurologist in Sonora, California. Dr. Huang is rated as a Distinguished provider by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. His top areas of expertise are Dyggve-Melchior-Clausen Syndrome, Spondyloepimetaphyseal Dysplasia Joint Laxity, Spondyloepiphyseal Dysplasia Congenita, and Kniest Dysplasia.

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