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Metaphyseal Chondrodysplasia, Schmid Type

Abstract

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NORD is very grateful to Michael Briggs, MD, Senior Research Fellow and Reader in Genetics, Wellcome Trust Centre for Cell-Matrix Research, Faculty of Life Sciences, University of Manchester, for assistance in the preparation of this report.

Synonyms of Metaphyseal Chondrodysplasia, Schmid Type

Japanese type spondylometaphyseal dysplasia
MCDS
Schmid metaphyseal dysostosis

Disorder Subdivisions

No subdivisions found.

General Discussion

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.

Organizations related to Metaphyseal Chondrodysplasia, Schmid Type

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