SEMD, Matrilin type
Definition:
SEMD, Matrilin type is a form of autosomal recessive spondyloepimetaphyseal dysplasia caused by homozygous mutation in matrilin 3, the extracellular matrix of cartilage. The phenotype is short-limb dwarfism. Several other skeletal changes such as lumbar lordosis and flat vertebral bodies characterize the disease.
References:
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[1]. Valérie Cormier-Daire, et al. Spondylo-epi-metaphyseal dysplasia. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. [Content Brief]
[2]. Z U Borochowitz, et al. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. J Med Genet. 2004 May;41(5):366-72. [Content Brief]
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