Leri-Weill syndrome

The Leri-Weill syndrome is a rare autosomal dominant dyschondrosteosis characterised by mesomelic shortening of limbs.

Patients present with short stature because of shortening of the forelegs (tibia/fibula defects) and forearms (with Madelung deformity). There is a higher prevalence in females 4

A majority of individuals have a mutation in the human homeobox (SHOX) gene located on the X (Xp22.3) and Y (Yp11.2) chromosomes 1.

First described by A. Leri and J. Weill in 1929.

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Article information

rID: 8827
Synonyms or Alternate Spellings:
  • Leri-Weill syndrome (LWS)
  • Leri-Weill dyschondrosteosis

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