Spondyloepimetaphyseal dysplasia with multiple dislocations
Alternate names
Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type
Definition
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
NIH genetic and rare disease info
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare disease.
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