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Metaphyseal chondrodysplasia Schmid type

Field	Value
name	Schmid metaphyseal chondrodysplasia
synonyms	MCDS
image	Autosomal dominant - en.svg
caption	This condition is inherited in an autosomal dominant manner.
field	orthopedic

Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1.

Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels. Long bones are short and curved, with widened growth plates and metaphyses.

It is named for the German researcher F. Schmid, who characterized it in 1949.

References

"Metaphyseal chondrodysplasia Schmid type {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
(September 2005). "Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients". Am. J. Med. Genet. A.
(May 2007). "COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid". Hum. Mol. Genet..
(March 2008). "Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia". Am. J. Hum. Genet..
Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.
Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.

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