Spondyloepimetaphyseal dysplasia joint laxity

From WikiMD's WELLNESSPEDIA

Alternate names[edit]

SEMDJL; Spondyloepimetaphyseal dysplasia with joint laxity

Definition[edit]

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]

Spondyloepimetaphyseal dysplasia joint laxity is a rare disease.

Rare and genetic diseases

Rare diseases - Spondyloepimetaphyseal dysplasia joint laxity

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