Léri-Weill syndrome / Langer mesomelic dysplasia

Léri-Weill syndrome (MIM 127300) is characterised by dwarfism with short forearms and legs and the so-called “Madelung’s deformity” with postnatal onset

which manifests clinically as a repositionable subluxation of the ulna’s distal end to dorsal. Bi-allelic mutations in SHOX cause Langer mesomelic dysplasia (MIM 249700) with severe disproportionate dwarfism.

Inheritance

pseudoautosomal-dominant

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Genes

The disorder is caused by haploinsufficiency of the SHOX gene (MIM 312865) in the pseudoautosomal region of the X or Y chromosome (Xp22.3 or Yp11.3).

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