Metaphyseal Chondrodysplasia, Schmid Type
It is possible that the main title of the report Metaphyseal Chondrodysplasia, Schmid Type is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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.
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
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Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
European Skeletal Dysplasia Network
Institute of Genetic Medicine
International Centre for Life
Newcastle upon Tyne, NE1 3BZ