Metaphyseal Chondrodysplasia, Schmid Type
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Metaphyseal Chondrodysplasia, Schmid Type is not the name you expected.
Metaphyseal chondrodysplasia, Schmid type (MCDS), is a very rare inherited disorder characterized by short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Other physical characteristics may include outward "flaring" of the bones of the lower rib cage, lumbar lordosis, pain in the legs, and/or hip deformities in which the thigh bone is angled toward the center of the body (coxa vara). Such abnormalities of the legs and hips typically result in an unusual "waddling" walk (gait). MCDS is transmitted as an autosomal dominant trait.
European Skeletal Dysplasia Network
- Institute of Genetic Medicine
- Newcastle University
- Newcastle upon Tyne, NE1 3BZ
- United Kingdom
- Tel: 441612755642
- Fax: 441612755082
- Email: firstname.lastname@example.org
- Website: http://www.esdn.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Child Health and Human Development
- 31 Center Dr
- Building 31, Room 2A32
- Bethesda, MD 20892
- Fax: (866)760-5947
- Tel: (800)370-2943
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 3/16/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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