Spondyloepimetaphyseal dysplasia joint laxity
Alternate names[edit | edit source]
SEMDJL; Spondyloepimetaphyseal dysplasia with joint laxity
Definition[edit | edit source]
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.
NIH genetic and rare disease info[edit source]
Spondyloepimetaphyseal dysplasia joint laxity is a rare disease.
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