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Dyggve Melchior Clausen Syndrome
Important
It is possible that the main title of the report Dyggve Melchior Clausen Syndromeis not the name you expected.
Synonyms
- DMC disease
- Pseudo-Morquio disease type I
- Smith-McCort dysplasia
- Smith-McCort syndrome
Disorder Subdivisions
- Smith-McCort dysplasia
General Discussion
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and mental retardation. Skeletal abnormalities may include a barrel-shaped chest with a short truck, partial dislocation of the hips, genu valgum (knocked knees) or varum (bowed legs), and decreased joint mobility. In 11% of patients, there is atlantoaxial (upper neck vertebrae) instability that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. Radiographic findings in older children and adults are pathognomonic for the disorder. The condition, DMC results from mutations in the DYM (dymeclin) gene and is inherited in an autosomal recessive mode. A variant of DMC syndrome, Smith-McCort syndrome (SMS), has identical skeletal abnormalities, but lacks the mental deficiency. SMS is also caused by mutations in DYM, and thus is allelic to DMC. Both are classified as osteochondrodysplasias, specifically a spondyloepimetaphyseal dysplasia; this latter category consists of 27 separate disorders.
Resources
Human Growth Foundation
997 Glen Cove Avenue
Glen Head
NY
11545
Tel: (516)671-4041
Fax: (516)671-4055
800: (800)451-6434
hgf1@hgfound.org
http://www.hgfound.org/
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park
IL
60302
Tel: (708)383-0808
Fax: (708)383-0899
800: (800)362-4423
mary@magicfoundation.org
http://www.magicfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/
Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin
CA
92780
Tel: (714)368-3689
800: (888)572-2001
info@lpaonline.org
http://www.lpaonline.org
NIH/National Institute of Child Health & Human Development (Preg & Perinat)
Pregnancy and Perinatology Branch
6100 Executive Blvd Rm 4B03
Bethesda
MD
20892-7510
Tel: (301)496-5575
BOCKR@mail.nih.gov
http://www.nichd.nih.gov
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 4/10/2009
Copyright 1992, 1999, 2005, 2009 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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