spondylo-epimetafysaire dysplasie Missouri-type (aandoening)
spondylo-epimetafysaire dysplasie Missouri-type
spondylo-epimetafysaire dysplasie type 2
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia type 2
Disorder with manifestations of 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. 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 siblings. Predisposition deformities to osteoarthritis have been noted. This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93356
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified