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"Resources" on this report.
Copyright 1992, 1999, 2005, 2009
NORD is very grateful to David D. Weaver, MD, Professor Emeritus of Medical Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, for assistance in the preparation of this report.
Synonyms of Dyggve Melchior Clausen Syndrome
- DMC disease
- Pseudo-Morquio disease type I
- Smith-McCort dysplasia
- Smith-McCort syndrome
Disorder Subdivisions
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.
Organizations related to Dyggve Melchior Clausen Syndrome
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Human Growth Foundation
997 Glen Cove Avenue
Glen Head NY 11545
Phone #: 516-671-4041
800 #: 800-451-6434
e-mail: hgf1@hgfound.org
Home page: http://www.hgfound.org/
- Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin CA 92780
Phone #: 714-368-3689
800 #: 888-572-2001
e-mail: info@lpaonline.org
Home page: http://www.lpaonline.org
- MAGIC Foundation
6645 W. North Avenue
Oak Park IL 60302
Phone #: 708-383-0808
800 #: 800-362-4423
e-mail: mary@magicfoundation.org
Home page: http://www.magicfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Institute of Child Health & Human Development (Preg & Perinat)
Pregnancy and Perinatology Branch
6100 Executive Blvd Rm 4B03
Bethesda MD 20892-7510
Phone #: 301-496-5575
800 #: --
e-mail: BOCKR@mail.nih.gov
Home page: http://www.nichd.nih.gov
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