Test Directory

Spondyloepimetaphyseal dysplasia, Missouri type, metaphyseal anadysplasia 1 and metaphyseal anadysplasia 2 - Spondyloepimetaphyseal dysplasia, Missouri type (SEMD, Missouri type; MIM 602111) is an autosomal dominant disorder caused by missense mutations in the prodomain of matrix metalloproteinase 13 (MMP13). SEMD, Missouri type is allelic to metaphyseal anadysplasia 1 (MANDP1; MIM 602111) and they most likely represent a phenotypic spectrum rather than discrete disorders. Both SEMD, Missouri type and MANDP1 are disorders characterized by similar, if not identical, transient metaphyseal abnormalities including flaring, irregularity and a widened growth plate that improve spontaneously. Other findings include pear-shaped vertebrae in childhood, delayed bone age, rhizomelic shortening especially of the lower limbs, genu varum, tibial, femoral, radial and ulnar bowing, small flattened epiphyses and irregular endplates. An autosomal recessive form of MANDP1, caused by loss of function mutations in the MMP13 gene, also exists. A second autosomal recessive form of metaphyseal anadysplasia, designated metaphyseal anadysplasia 2 (MANDP2; MIM 613073), is caused by loss of function mutations in the matrix metalloproteinase 9 gene (MMP9). MANDP1 and MANDP2 are considered to be phenotypically indistinguishable. The dominant forms of SEMD, Missouri type / MANDP are considered to be more severe than the recessive forms.