Dyggve-Melchior-Clausen Syndrome
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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
Endocrinology
Distinguished in Dyggve-Melchior-Clausen Syndrome
Endocrinology

Adventist Health Physicians Network

515 S Fairmont Ave, 
Lodi, CA 
Languages Spoken:
English

Frank Huang is an Endocrinologist practicing medicine in Lodi, California. Dr. Huang is rated as a Distinguished provider by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Dyggve-Melchior-Clausen Syndrome, Otospondylomegaepiphyseal Dysplasia, Spondyloenchondrodysplasia, and CHST3-Related Skeletal Dysplasia.

Experienced in Dyggve-Melchior-Clausen Syndrome
Orthopedics
Experienced in Dyggve-Melchior-Clausen Syndrome
Orthopedics

Twin Cities Spine Center

913 E 26th St, Suite 600, 
Minneapolis, MN 
Experience:
25+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Joseph Perra is an Orthopedics provider practicing medicine in Minneapolis, Minnesota. He has been practicing medicine for over 25 years. Dr. Perra is rated as an Experienced provider by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Frontonasal Dysplasia Klippel Feil Syndrome, Spinal Fusion, and Microdiscectomy. Dr. Perra is currently accepting new patients.

 
 
 
 
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Advanced in Dyggve-Melchior-Clausen Syndrome
Pediatric Radiology | Pediatrics
Advanced in Dyggve-Melchior-Clausen Syndrome
Pediatric Radiology | Pediatrics

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
Languages Spoken:
English

Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging  Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as an Advanced provider by MediFind in the treatment of Dyggve-Melchior-Clausen Syndrome. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Weissenbacher-Zweymuller Syndrome, Kniest Dysplasia, and Spondyloepiphyseal Dysplasia. Dr. Harty is board certified in American Board Of Radiology.

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