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Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
ORPHA:93356Classification level: Disorder
The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations.
Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected sibs. Predisposition deformities to osteoarthritis (especially of the knees) have been noted.
This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.