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Spondyloepimetaphyseal dysplasia with joint laxity

rare

A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.

Identifiers
MONDO:0019675 Orphanet:93359
Part of
Spondyloepimetaphyseal dysplasia
Also known as
SEMD-JL · SEMDJL · spondyloepimetaphyseal dysplasia joint laxity

Subtypes

All diseases Rare only
Disease Subtypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Spondyloepimetaphyseal dysplasia with multiple dislocations

Rare disease

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