Metaphyseal chondrodysplasia Schmid type

Schmid metaphyseal chondrodysplasia
Other names	MCDS [1]
This condition is inherited in an autosomal dominant manner.
Specialty	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]

References

1. "Metaphyseal chondrodysplasia Schmid type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on October 20, 2019. Retrieved 20 October 2019.
2. Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG (September 2005). "Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients". Am. J. Med. Genet. A. 137A (3): 241–8. doi:10.1002/ajmg.a.30855. PMID   16088909. S2CID   1846057.
3. Ho MS, Tsang KY, Lo RL, et al. (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. 16 (10): 1201–15. doi: 10.1093/hmg/ddm067 . PMID   17403716.
4. Tan JT, Kremer F, Freddi S, et al. (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. 82 (3): 786–93. doi:10.1016/j.ajhg.2008.01.006. PMC   2427218 . PMID   18304492.
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.