Metaphyseal chondrodysplasia Schmid type explained

Schmid metaphyseal chondrodysplasia
Synonyms:	MCDS^[1]
Field:	orthopedic

Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1.^{[2] [3] [4]}

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.^[5]

It is named for the German researcher F. Schmid, who characterized it in 1949.^[6]

Notes and References

1. Web site: Metaphyseal chondrodysplasia Schmid type Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 20 October 2019.
2. Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG . Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients . Am. J. Med. Genet. A . 137A . 3 . 241–8 . September 2005 . 16088909 . 10.1002/ajmg.a.30855. 1846057 .
3. Ho MS, Tsang KY, Lo RL, etal . 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. . 16 . 10 . 1201–15 . May 2007 . 17403716 . 10.1093/hmg/ddm067 . free .
4. Tan JT, Kremer F, Freddi S, etal . 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. . 82 . 3 . 786–93 . March 2008 . 18304492 . 10.1016/j.ajhg.2008.01.006 . 2427218.
5. Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.
6. Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.