ORPHA:93360

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

Also called SEMD-MD, SEMDJL2, Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, Spondyloepimetaphyseal dysplasia with joint laxity type 2, Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type

Body system

Bone diseases

Inheritance pattern

Autosomal dominant

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Europe)

Rarity class

<1 / 1 000 000

ORPHA:93360 is classified under "Bone diseases" in the Orphanet nomenclature.