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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?
Robert H. Cho
Experienced in Dyggve-Melchior-Clausen Syndrome
Pediatric Orthopedics | Orthopedics
Experienced in Dyggve-Melchior-Clausen Syndrome
Pediatric Orthopedics | Orthopedics

Los Angeles Pediatric Orthopaedics

11710 Wilshire Blvd, 
Los Angeles, CA 
Languages Spoken:
English
Offers Telehealth

Robert Cho is an Orthopedics provider in Los Angeles, California. Dr. Cho is rated as an Experienced provider by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Kyphosis, and Spinal Fusion.

Distinguished in Dyggve-Melchior-Clausen Syndrome
Distinguished in Dyggve-Melchior-Clausen Syndrome
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 Split Hand Foot Malformation.

 
 
 
 
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Distinguished in Dyggve-Melchior-Clausen Syndrome
Distinguished in Dyggve-Melchior-Clausen Syndrome
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.

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