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]

NIH info on Spondyloepimetaphyseal dysplasia joint laxity

Spondyloepimetaphyseal dysplasia joint laxity is a rare disease.

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Rare diseases - Spondyloepimetaphyseal dysplasia joint laxity
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Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine