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Genetic and Rare Diseases Information Center (GARD)

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Dyggve-Melchior-Clausen syndrome


Other Names for this Disease
  • DMC syndrome
  • Dyggve-Melchior-Clausen disease
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Overview



What is Dyggve-Melchior-Clausen syndrome?

What are the signs and symptoms of Dyggve-Melchior-Clausen syndrome?

Is genetic testing available for Dyggve-Melchior-Clausen syndrome?

How is Dyggve-Melchior-Clausen syndrome diagnosed?

How might Dyggve-Melchior-Clausen syndrome be treated?


What is 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 kneesbowlegs, 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.[1] Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.[2]
Last updated: 6/9/2011

What are the signs and symptoms of Dyggve-Melchior-Clausen syndrome?

Affected newborns may be small at birth, but otherwise appear normal. Skeletal findings are often recognized first between 1 and 18 months. With age, other characteristics begin to develop. Chest deformities, feeding difficulties, and developmental delay usually occur before 18 months. Disproportionate short stature usually occurs after 18 months. Additional features may include a long skull, distinctive facial appearance, a protruding jaw, microcephaly, and claw-like hands. Intellectual disability occurs in most cases, ranging from moderate to severe.[1]

Affected individuals can also develop a protruding breastbone; spinal abnormalities; abnormal bones in the hands, fingers, toes, wrists, and long bones of the arms and legs; and joint contractures, especially of the elbows and hips. Secondary problems resulting from the skeletal abnormalities may include spinal compression, dislocated hips, and restricted joint mobility. These problems may in turn cause a waddling gait.[1]
Last updated: 5/18/2011

Is genetic testing available for Dyggve-Melchior-Clausen syndrome?

GeneTests lists the name of the laboratory that performs clinical genetic testing for Dyggve-Melchior-Clausen syndrome. To view the contact information for this laboratory, click here.

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 5/16/2011

How is Dyggve-Melchior-Clausen syndrome diagnosed?

DMC syndrome may be suspected following a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings (e.g., barrel chest, and disproportionate short stature). Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome. Genetic testing can also confirm a diagnosis.[1]
Last updated: 5/16/2011

How might Dyggve-Melchior-Clausen syndrome be treated?

Treatment of individuals with DMC syndrome depends on the affected person's symptoms and is usually supportive. There is no cure for this condition. Treatments might include spinal fusion of the segments of the spinal column at the top of the spine or other means of vertebral stabilization. Additional surgical techniques may be used to correct various skeletal abnormalities such as dislocation of the shoulder and hip joints. In some cases, hip replacement is required. Children with DMC syndrome may benefit from early intervention and special educational programs.[1]
Last updated: 5/16/2011

References
  1. Dyggve Melchior Clausen syndrome. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/874/viewAbstract. Accessed 5/16/2011.
  2. Dyggve-Melchior-Clausen syndrome, X-linked. Online Mendelian Inheritance of Man (OMIM). 1994; http://www.ncbi.nlm.nih.gov/omim/304950. Accessed 5/16/2011.