Schmid metaphyseal chondrodysplasia

Schmid metaphyseal chondrodysplasia
Classification and external resources
OMIM 156500

Schmid metaphyseal chondrodysplasia is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1.[1][2][3]

These individuals will have normal serum calcium, phosphorus, and urinary amino acid levels which distinguishes them from many of the rickets syndromes. Long bones will be short and curved, with widened growth plates and metaphysis [4]

It is named for F Schmid, who characterized it in 1949.[5]

References

  1. ^ 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. 
  2. ^ 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. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=17403716. 
  3. ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(08)00135-3. 
  4. ^ Benson, Michael. "Childrens Orthopaedics and Fractures". Springer. p. 93.
  5. ^ Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.
Osteodysplasia/
osteodystrophy
Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia
Other/ungrouped
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
Other dwarfism

M: BON/CAR

anat(c/f/k/f, u, t/p, l)/phys/devp/cell

noco/cong/tumr, sysi/epon, injr

proc, drug(M5)
Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)
Collagen disease

COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7

COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)

COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)

COL4: Alport syndrome

COL5: Ehlers–Danlos syndrome, types 1 & 2

COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy

COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn

COL8: Fuchs' dystrophy 1

COL9: Multiple epiphyseal dysplasia 2, 3, 6

COL10: Schmid metaphyseal chondrodysplasia

COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)

COL17: Bullous pemphigoid
Laminin
Other
see also fibrous proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Autsomal dominant disorder Predominantly affects the hip And can present with bowed legs