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Fibrochondrogenesis

Definition:

Fibrochondrogenesis is a very rare, neonatally lethal, short-limb skeletal dysplasia. It is an autosomal recessive disorder shown to result from mutations in the COL11A1 type XI collagen gene. Recently, It has been demonstrated that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2.

References:

[1]. D J Eteson, et al. Fibrochondrogenesis: radiologic and histologic studies. Am J Med Genet. 1984 Oct;19(2):277-90. [Content Brief]

[2]. Stuart W Tompson, et al. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012 Feb;158A(2):309-14. [Content Brief]

[3]. Stuart W Tompson, et al. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87(5):708-12. [Content Brief]

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