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]

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.^[4]

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

References

↑ 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.
↑ 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.
↑ 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.
↑ Benson, Michael. "Children's Orthopaedics and Fractures". Springer. p. 93.
↑ Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949.

Osteochondrodysplasia (Q77–Q78, 756.4–756.5)

Osteodysplasia//
osteodystrophy

Diaphysis	Camurati–Engelmann disease

Metaphysis	Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia

Epiphysis	Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia

Osteosclerosis	Raine syndrome Osteopoikilosis Osteopetrosis

Other/ungrouped	FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome

Chondrodysplasia/
chondrodystrophy
(including dwarfism)

Osteochondroma

osteochondromatosis
- Hereditary multiple exostoses

Chondroma/enchondroma

enchondromatosis
- Ollier disease
- Maffucci syndrome

Growth factor receptor

FGFR2:	Antley–Bixler syndrome

FGFR3:	Achondroplasia Hypochondroplasia Thanatophoric dysplasia

COL2A1 collagen disease

SLC26A2 sulfation defect

Chondrodysplasia punctata

Other dwarfism

Diseases of collagen, laminin and other scleroproteins

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

This article is issued from Wikipedia - version of the 7/31/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.