Léri-Weill dyschondrosteosis

Léri-Weill dyschondrosteosis or LWD is a rare genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a particular deformity of the forearms (Madelung's deformity).

Causes
It is often caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes.

Variant deletions have been identified.

History
LWD was first described in 1929 by André Léri and Jean A. Weill.